Fa: Gastrointestinal - Pathology

Front 1

What are the types of tumors in the salivary glands?

Back 1

- Pleomorphic adenoma
- Warthin tumor
- Mucoepidermoid carcinoma

Front 2

Where are salivary gland tumors usually located? Benign or malignant?

Back 2

- Most occur in parotid gland
- Generally benign (except mucoepidermoid carcinoma)

Front 3

What is the most common salivary gland tumor?

Back 3

Pleomorphic Adenoma (benign mixed tumor)

Front 4

Which tumor presents as a painless, mobile mass, in a salivary gland? What does it consist of?

Back 4

Pleomorphic Adenoma (benign mixed tumor)
- Chondromyxoid stroma and epithelium

Front 5

What is the treatment and prognosis for Pleomorphic Adenoma of the salivary gland?

Back 5

- Can recur if incompletely excised or ruptured intraoperatively
- Benign

Front 6

Which tumor presents as a cystic tumor with germinal centers in a salivary gland?

Back 6

Warthin Tumor (papillary cystadenoma lymphomatosum)
- Benign cystic tumor

Front 7

What are the characteristics of a Warthin tumor?

Back 7

- Benign cystic tumor with germinal centers
- Papillary cystadenoma lymphomatosum

Front 8

What is the most common malignant tumor of the salivary glands?

Back 8

Mucoepidermoid Carcinoma

Front 9

Which tumor presents as a painless, slow-growing mass in a salivary gland? Contents?

Back 9

Mucoepidermoid Carcinoma -
- Most common malignant tumor of salivary glands
- Mucinous and squamous components

Front 10

What are the characteristics of a Mucoepidermoid Carcinoma?

Back 10

- Most common malignant tumor of salivary glands
- Mucinous and squamous components
- Typically presents as a painless, slow-growing mass

Front 11

What is the term for the failure of relaxation of the lower esophageal sphincter with uncoordinated peristalsis?

Back 11

Achalasia

Front 12

What are the characteristics of Achalasia? Cause?

Back 12

- Failure of relaxation of LES due to loss of myenteric (Auerbach) plexus
- High LES opening pressure and uncoordinated peristalsis → progressive dysphagia to solids and liquids (vs obstruction - solids only)

- May also be secondary to Chagas disease

Front 13

Which test can be used to assess for the presence of Achalasia? Results?

Back 13

Barium Swallow Test = shows "bird's beak" - dilated esophagus with an area of distal stenosis

Front 14

A patient presents with dysphagia to solids and liquids; a barium swallow test shows a "bird's beak" appearance. What is the most likely diagnosis? What is this patient at risk for?

Back 14

Achalasia
- At increased risk for esophageal squamous cell carcinoma

Front 15

What may 2° Achalasia be caused by?

Back 15

Chagas disease

Front 16

Which pathology causes transmural, usually distal esophageal rupture, due to violent retching? Treatment?

Back 16

Boerhaave Syndrome
- Surgical emergency

Front 17

Which pathology leads to dysphagia, heartburn, and strictures in response to food allergen exposure in atopic patients who are unresponsive to GERD therapy? Characteristics?

Back 17

Eosinophilic Esophagitis
- Infiltration of eosinophils in the esophagus

Front 18

Which pathology is associated with lye ingestion and acid reflux?

Back 18

Esophageal strictures

Front 19

Which pathology causes painless bleeding of the esophagus? Characteristics?

Back 19

Esophageal Varices
- Bleeding occurs in dilated submucosal veins in lower 1/3 of esophagus
- Secondary to portal hypertension

Front 20

Which esophageal pathology is caused by portal hypertension?

Back 20

Esophageal Varices
- Painless bleeding occurs in dilated submucosal veins in lower 1/3 of esophagus

Front 21

Which pathology is associated with reflux, infection in immunocompromised, or chemical ingestion?

Back 21

Esophagitis

Front 22

What cause cause Esophagitis?

Back 22

- Reflux
- Infection in immunocompromised: Candida, HSV-1, or CMV
- Chemical ingestion

Front 23

Which pathology causes white pseudomembranes to form on the esophagus (esophagitis)? Who is it at risk for this?

Back 23

Candida
- Occurs in immunocompromised patients

Front 24

Which pathology causes "punched-out" ulcers to form on the esophagus (esophagitis)? Who is it at risk for this?

Back 24

HSV-1
- Occurs in immunocompromised patients

Front 25

Which pathology causes "linear" ulcers to form on the esophagus (esophagitis)? Who is it at risk for this?

Back 25

CMV
- Occurs in immunocompromised patients

Front 26

Which pathology commonly presents as heartburn and regurgitation upon lying down, may also present with nocturnal cough and dyspnea (adult-onset asthma)? Characteristics?

Back 26

Gastroesophageal Reflux Disease (GERD)
- Decrease in LES tone

Front 27

Which pathology causes mucosal lacerations at the gastroesophageal junction due to severe vomiting? Characteristics?

Back 27

Mallory-Weiss Syndrome
- Leads to hematemesis
- Usually found in alcoholics and bulimics

Front 28

Which pathology causes hematemesis in alcoholics and bulimics?

Back 28

Mallory-Weiss Syndrome
- Mucosal lacerations at the gastroesophageal junction due to severe vomiting

Front 29

Which pathology causes dysphagia, iron deficiency anemia, and glossitis?

Back 29

Plummer-Vinson Syndrome
- "Plumbers" DIG: Dysphagia, Iron deficiency anemia, and Glossitis
- Dysphagia is due to esophageal webs

Front 30

Which pathology causes acid reflux and dysphagia, which leads to stricture, Barrett esophagus, and aspiration? Characteristics?

Back 30

Sclerodermal Esophageal Dysmotility
- Esophageal smooth muscle atrophy → ↓ LES pressure and dysmotility → acid reflux and dysphagia → stricture, Barrett esophagus, and aspiration
- Part of CREST syndrome

Front 31

Which esophageal pathology is part of CREST syndrome?

Back 31

Sclerodermal Esophageal Dysmotility
- Esophageal smooth muscle atrophy → ↓ LES pressure and dysmotility → acid reflux and dysphagia → stricture, Barrett esophagus, and aspiration

Front 32

What happens in Boerhaave Syndrome?

Back 32

- Transmural, usually distal esophagus rupture
- Due to violent retching
- Surgical emergency

Front 33

What happens in Eosinophilic Esophagitis?

Back 33

- Infiltration of eosinophils in esophagus of atopic patients
- Food allergens → dysphagia, heartburn, strictures
- Unresponsive to GERD therapy

Front 34

What causes Esophageal Strictures?

Back 34

Associated with lye ingestion and acid reflux

Front 35

What happens with Esophageal Varices? Cause?

Back 35

- Painless bleeding of dilated submucosal veins in lower 1/3 of esophagus
- Secondary to portal hypertension

Front 36

What can cause esophagitis?

Back 36

- Reflux

- Infection in immunocompromised host:
* Candida (white pseudomembranes)
* HSV-1 (punched-out ulcers)
* CMV (linear ulcers)

- Chemical ingestion

Front 37

What happens in Gastroesophageal Reflux Disease?

Back 37

- Commonly presents as heartburn and regurgitation upon lying down
- May also present with nocturnal cough and dyspnea, adult-onset asthma
- Decrease in LES tone

Front 38

What happens in Mallory-Weiss Syndrome?

Back 38

- Mucosal lacerations at the gastroesophageal junction due to severe vomiting
- Leads to hematemesis
- Usually found in alcoholics and bulimics

Front 39

What happens in Plummer-Vinson Syndrome?

Back 39

Triad of (Plumber's DIG):
- Dysphagia (due to esophageal webs)
- Iron deficiency anemia
- Glossitis

Front 40

What happens in Sclerodermal Esophageal Dysmotility?

Back 40

- Esophageal smooth muscle atrophy → ↓ LES pressure and dysmotility → acid reflux and dysphagia → stricture, Barrett esophagus, and aspiration
- Part of CREST syndrome

Front 41

What change occurs in Barrett Esophagus?

Back 41

Glandular metaplasia: replacement of non-keratinized (stratified) squamous epithelium with intestinal epithelium (non-ciliated columnar with goblet cells) in distal esophagus

Front 42

What causes Barrett Esophagus? Risks?

Back 42

- Caused by chronic acid reflux (GERD)
- Associated with esophagitis, esophageal ulcers, and ↑ risk esophageal adenocarcinoma

Front 43

In a patient with chronic GERD, what do you need to be worried about them potentially developing?

Back 43

- Increased risk for Barrett's esophagus
- Patients with Barrett's esophagus are at increased risk for esophagitis, esophageal ulcers, and esophageal adenocarcinoma

Front 44

What are the types of esophageal cancer?

Back 44

- Squamous cell carcinoma
- Adenocarcinoma

Front 45

If your patient presents with progressive dysphagia (first solids, then liquids) and weight loss, what should you suspect? Prognosis?

Back 45

Esophageal cancer (either squamous cell carcinoma or adenocarcinoma)
- Poor prognosis

Front 46

What are the risk factors for esophageal cancer?

Back 46

AABCDEFFGH:
- Achalasia
- Alcohol (squamous cell)
- Barrett esophagus (adeno)
- Cigarettes (both)
- Diverticula (eg, Zenker) (squamous)
- Esophageal web (squamous)
- Familial
- Fat/Obesity (adeno)
- GERD (adeno)
- Hot liquids (squamous)

Front 47

What are the risk factors for squamous cell carcinoma of the esophagus?

Back 47

- Achalasia
- Alcohol
- Cigarettes
- Diverticula (eg, Zenker)
- Esophageal web
- Familial
- Hot liquids

Front 48

What are the risk factors for adenocarcinoma of the esophagus?

Back 48

- Achalasia
- Barrett esophagus (adeno)
- Cigarettes
- Familial
- Fat/Obesity
- GERD

Front 49

What are the differences between squamous cell carcinoma and adenocarcinoma in terms of prevalence and location in esophagus?

Back 49

Squamous Cell Carcinoma
- More common worldwide
- Upper 2/3

Adenocarcinoma
- More common in US
- Lower 1/3

Front 50

Which type of cancer more commonly affects the upper part of the esophagus?

Back 50

Squamous cell carcinoma

Front 51

Which type of cancer more commonly affects the lower part of the esophagus?

Back 51

Adenocarcinoma

Front 52

What are the types of gastritis?

Back 52

- Acute gastritis (erosive)
- Chronic gastritis (non-erosive): type A (fundus/body) and type B (antrum)

Front 53

What causes acute gastritis?

Back 53

Disruption of mucosal barrier → inflammation:

- Stress
* NSAIDs (↓ PGE2 → ↓ gastric mucosa protection)
* Alcohol
- Uremia
- Burns (Curling ulcer: ↓ plasma volume → sloughing of gastric mucosa)
- Brain injury (Cushing ulcer: ↑ vagal stimulation → ↑ ACh → ↑ H+ production)

Front 54

What is a Curling ulcer? What does it lead to?

Back 54

- Curling ulcer is caused by burns (think burned by the curling iron)
- Leads to ↓ plasma volume → sloughing of gastric mucosa
- Cause of acute gastritis

Front 55

What is a Cushing ulcer? What does it lead to?

Back 55

- Cushing ulcer is caused by brain injury (think always cushion the brain)
- Leads to ↑ vagal stimulation → ↑ ACh → ↑ H+ production
- Cause of acute gastritis

Front 56

What is especially common among alcoholics and patients taking daily NSAIDs (eg, patients with rheumatoid arthritis)?

Back 56

Acute Gastritis (erosive)

Front 57

What is the name of the auto-immune disorder characterized by auto-antibodies to parietal cells? What does this lead to?

Back 57

Chronic gastritis (type A - in fundus/body)
- Leads to pernicious Anemia and Achlorhydria
- Associated with other auto-immune disorders

Front 58

What is the name of disorder caused by H. pylori infection? What are you at risk for?

Back 58

Chronic gastritis (type B - in antrum)
- Most common type of chronic gastritis
- Increased risk for MALT lymphoma and gastric adenocarcinoma

Front 59

Which type of chronic gastritis affects the fundus, body, and antrum?

Back 59

- Type A (auto-immune): affects fundus / body
- Type B (H. pylori): affects antrum

Front 60

What are the characteristics of type A chronic gastritis?

Back 60

- Affects the fundus/body
- Caused by Auto-Antibodies to parietal cells
- Causes pernicious Anemia and Achlorhydria

Front 61

What are the characteristics of type B chronic gastritis?

Back 61

- Most common type
- Affects the antrum
- Caused by H. pylori Bacteria infection
- Increased risk of MALT lymphoma and gastric adenocarcinoma

Front 62

What disease causes protein loss, parietal cell atrophy, and increased mucus cells?

Back 62

Ménétrier Disease: causes gastric hypertrophy that is so extensive, the rugae of the stomach look like brain gyri

Front 63

What happens in Ménétrier disease?

Back 63

- Gastric hypertrophy causes protein loss, parietal cell atrophy, and increased mucus cells
- Precancerous!!
- Rugae of stomach are so hypertrophied that they look like brain gyri

Front 64

What is the most common kind of stomach cancer?

Back 64

Almost always adenocarcinoma

Front 65

What are the characteristics and types of stomach cancer?

Back 65

- Almost always adenocarcinoma
- Early aggressive local spread and node/liver metastases
- Often presents with acanthosis nigricans (brown to black, velvety hyperpigmentation of skin, often in body folds)
- Two types: intestinal and diffuse

Front 66

What type of stomach cancer is associated with H. pylori infection, dietary nitrosamines, tobacco smoking, achlorhydria, and chronic gastritis? Location? Appearance?

Back 66

Intestinal adenocarcinoma
- Commonly on lesser curvature
- Looks like an ulcer with raised margins

Front 67

What type of stomach cancer is characterized by grossly thickened walls with leathery appearance (linitis plastica)? Other characteristics?

Back 67

Diffuse adenocarcinoma
- Not associated with H. pylori infection
- Signet ring cells on histology

Front 68

What does this show histologically? Sign of?

Back 68

Signet ring cell - sign of diffuse stomach cancer
- Not associated w/ H. pylori infection
- Stomach wall is grossly thickened and leathery (linitis plastica)

Front 69

What is the term for a thickened and leathery stomach wall?

Back 69

Linitis plastica

Front 70

What is intestinal stomach adenocarcinoma associated with?

Back 70

- H. pylori infection
- Dietary nitrosamines (smoked foods)
- Tobacco smoking
- Achlorhydria
- Chronic gastritis (auto-antibodies would cause achlorhydria)

Front 71

In what patterns does stomach cancer spread?

Back 71

- Virchow node (L supraclavicular node)
- Krukenberg tumor (ovaries)
- Sister Mary Joseph nodule (periumbilial)

Front 72

What is the name for the involvement of the L supraclavicular node by metastasis from the stomach?

Back 72

Virchow Node

Front 73

What is the name for the bilateral metastases to the ovaries? Sign?

Back 73

Krukenberg Tumor - abundant mucus and signet ring cells (occurs in diffuse stomach cancer)

Front 74

What is the name for the subcutaneous periumbilical metastasis?

Back 74

Sister Mary Joseph Nodule - occurs in metastasis of stomach cancer

Front 75

Peptic ulcer disease can affect what areas of the GI tract?

Back 75

- Gastric ulcer (stomach)
- Duodenal ulcer

Front 76

How do Gastric and Duodenal ulcers compare in terms of pain?

Back 76

- Gastric: can be greater with meals → weight loss
- Duodenal: decreases with meals → weight gain

Front 77

How do Gastric and Duodenal ulcers compare in terms of the presence of H. pylori infection?

Back 77

- Gastric: in 70%
- Duodenal: in almost 100%

Front 78

How do Gastric and Duodenal ulcers compare in terms of the mechanism of ulceration?

Back 78

- Gastric: ↓ mucosal protection against gastric acid
- Duodenal: ↓ mucosal protection or ↑ gastric acid secretion

Front 79

How do Gastric and Duodenal ulcers compare in terms of other causes?

Back 79

- Gastric: NSAIDs
- Duodenal: Zollinger-Ellison syndrome

Front 80

How do Gastric and Duodenal ulcers compare in terms of the risk of carcinoma?

Back 80

- Gastric: increased
- Duodenal: generally benign

Front 81

How do Gastric and Duodenal ulcers compare in terms of who is affected?

Back 81

Gastric: often occurs in older patients

Front 82

How do Gastric and Duodenal ulcers compare in terms of the effect on Brunner glands?

Back 82

Duodenal: hypertrophy of Brunner glands

Front 83

Gastric Ulcer:
- Pain
- Weight change
- H. pylori
- Mechanism
- Other causes
- Risk of carcinoma
- Other

Back 83

- Pain: can be Greater with meals
- Weight change: weight loss (pain is worse with meals)
- H. pylori: in 70%
- Mechanism: ↓ mucosal protection from gastric acid
- Other causes: NSAIDs
- Risk of carcinoma: increased
- Other: often occurs in older patients

Front 84

Duodenal ulcer:
- Pain
- Weight change
- H. pylori
- Mechanism
- Other causes
- Risk of carcinoma
- Other

Back 84

- Pain: decreases with meals
- Weight change: weight gain (because eating decreases pain)
- H. pylori: in almost 100%
- Mechanism: ↓ mucosal protection or ↑ gastric acid secretion
- Other causes: Zollinger-Ellison syndrome
- Risk of carcinoma: generally benign
- Other: hypertrophy of Brunner glands

Front 85

What are the potential complications of ulcers?

Back 85

- Hemorrhage
- Perforation

Front 86

Which ulcer complication is more common in gastric ulcers?

Back 86

Hemorrhage

Front 87

Which ulcer complication is more common in duodenal ulcers?

Back 87

- Perforation (anterior > posterior)
- Hemorrhage (posterior > anterior)

Front 88

If a patient with a gastric ulcer hemorrhages, what is the most likely source of the bleed?

Back 88

Most likely from lesser curvature → bleeding from L gastric artery

Front 89

If a patient with a duodenal ulcer hemorrhages, what is the most likely source of the bleed?

Back 89

Most likely from posterior wall of duodenum → bleeding from gastroduodenal artery

Front 90

Perforation as a consequence of a duodenal ulcer is most likely to occur where? Symptoms?

Back 90

- Anterior wall > Posterior wall
- May see free air under diaphragm on CXR
- Referred pain to shoulder

Front 91

What does this CXR show?

Back 91

Perforation of duodenal ulcer (anterior wall > posterior wall)
- Leads to free air under the diaphragm
- May cause referred pain to shoulder

Front 92

What are the potential consequences of malabsorption syndromes?

Back 92

- Diarrhea
- Steatorrhea
- Weight loss
- Weakness
- Vitamin and mineral deficiencies

Front 93

If your patient presents with diarrhea, steattorhea, weight loss, weakness, and vitamin/mineral deficiencies, what should you consider?

Back 93

Malabsorption Syndromes: "These Will Cause Devastating Absorption Problems"
- Tropical sprue
- Whipple disease
- Celiac sprue
- Disaccharidase deficiency
- Abetalipoproteinemia
- Pancreatic insufficiency

Front 94

Which malabsorption syndrome should you consider in a patient who recently visited the tropics? Cause? How should they be treated?

Back 94

Tropical Sprue
- Similar to celiac sprue (affects small bowel)
- Responds to antibiotics (cause is unknown)

Front 95

Which malabsorption syndrome should you consider in an older man who also presents with cardiac symptoms, arthralgias, and neurologic symptoms? Cause? Other?

Back 95

Whipple Disease
- Infection with Tropheryma whipplei (G+, PAS stain + for foamy macrophages in intestinal lamina propria and mesenteric nodes)

*Foamy Whipped cream in a CAN: cardiac sx, arthralgias, neuro sx)

Front 96

Which malabsorption syndrome should you consider in a patient of northern European descent? Cause? How should they be treated?

Back 96

Celiac sprue
- Autoimmune-mediated intolerance of gliadin (wheat) → malabsorption and steatorrhea
- Associated with HLA-DQ2 and HLA-DQ8
- Treat with gluten-free diet

Front 97

Which malabsorption syndrome should you consider in a patient intolerant of milk? Symptoms?

Back 97

Disaccharidase deficiency (lactase)
- Osmotic diarrhea
- May be self-limited follow an acute injury (eg, viral diarrhea)

Front 98

Which malabsorption syndrome should you consider in a young child with failure to thrive, steatorrhea, acanthocytosis, ataxia, and night blindness? Cause?

Back 98

Abetalipoproteinemia
- ↓ Synthesis of apolipoprotein B → inability to generate chylomicrons → ↓ secretion of cholesterol, VLDL into bloodstream → fat accumulation in enterocytes

Front 99

Which malabsorption syndrome should you consider in a patient with cystic fibrosis?

Back 99

Pancreatic insufficiency
- Causes malabsorption of fat and fat-soluble vitamins (A, D, E, and K)

Front 100

Which malabsorption syndrome should you consider in a patient with obstructing cancer?

Back 100

Pancreatic insufficiency
- Causes malabsorption of fat and fat-soluble vitamins (A, D, E, and K)

Front 101

Which malabsorption syndrome should you consider in a patient with chronic pancreatitis?

Back 101

Pancreatic insufficiency
- Causes malabsorption of fat and fat-soluble vitamins (A, D, E, and K)

Front 102

What are the signs/symptoms of malabsorption syndromes?

Back 102

- Diarrhea
- Steatorrhea
- Weight loss
- Weakness
- Vitamin and mineral deficiencies

Front 103

What are the characteristics of Tropical Sprue?

Back 103

Malabsorption syndrome
- Similar findings as celiac sprue (affects small bowel)
- Responds to antibiotics
- Cause is unknown, but seen in residents of or recent visitors to tropics

Front 104

What are the characteristics of Whipple disease?

Back 104

Malabsorption syndrome
- Infection with Tropheryma whipplei (G+)
- PAS positive for foamy macrophages in intestinal lamina propria
- Mesenteric nodes
- CAN: Cardiac symptoms, Arthralgias, and Neurologic symptoms common
- Most often occurs in older men

Front 105

What are the characteristics of Celiac Sprue?

Back 105

Malabsorption syndrome:
- Auto-immune mediated intolerance of gliadin (wheat) → malabsorption and steatorrhea
- Associated with HLA-DQ2, HLA-DQ8, and northern European descent
- Antibodies: anti-endomysial, anti-tissue transglutaminase, and anti-gliadin antibodies
- Blunting of villi and lymphocytes in lamina propria (picture)
- ↓ Mucosal absorption, primarily affects distal duodenum and/or proximal jejunum
- Diagnosis: serum levels of tissue transglutaminase antibodies
- Associated with dermatitis herpetiformis
- Moderately ↑ risk of malignancy (eg, T-cell lymphoma)
- Treat: gluten-free diet

Front 106

What are the characteristics of Disaccharidase Deficiency?

Back 106

Malabsorption syndrome:
- Most common is lactase deficiency → milk intolerance
- Normal-appearing villi
- Osmotic diarrhea
- Since lactase is located at tips of intestinal villi, self-limited lactase deficiency can occur following injury (eg, viral diarrhea)
- Diagnosis: lactose tolerance test (+) if administration of lactose produces symptoms and glucose rises <20 mg/dL

Front 107

What are the characteristics of abetalipoproteinemia?

Back 107

Malabsorption Syndrome:
- ↓ Synthesis of apolipoprotein B → inability to generate chylomicrons → ↓ secretion of cholesterol, VLDL into bloodstream → fat accumulation in enterocytes
- Presents in early childhood with failure to thrive, steatorrhea, acanthocytosis (RBCs with spiked membrane), ataxia, and night blindness

Front 108

What are the characteristics of Pancreatic Insufficiency?

Back 108

Malabsorption Syndrome
- Due to cystic fibrosis, obstructing cancer, and chronic pancreatitis
- Causes malabsorption of fat and fat-soluble vitamins (A, D, E, and K)
- ↑ Neutral fat in stool
- Diagnosis: D-xylose absorption test - normal urinary excretion in pancreatic insufficiency; ↓ excretion with intestinal mucosa defects or bacterial overgrowth

Front 109

Which type of malabsorption syndrome is caused by infection?

Back 109

- Tropical Sprue (treat with antibiotics) - cause is unknown
- Whipple Disease - infection with Tropheryma whipplei (G+)
- Self-limited lactase deficiency - following viral diarrhea

Front 110

Which type of malabsorption syndrome is characterized by foamy macrophages?

Back 110

Whipple Disease

Front 111

What is Celiac Sprue associated with?

Back 111

- HLA-DQ2, HLA-DQ8
- Northern European descent
- Dermatitis Herpetiformis (watery blisters, not caused by herpes)
- Increased risk of malignancy (eg, T-cell lymphoma)

Front 112

What antibodies cause Celiac Sprue?

Back 112

- Anti-endomysial antibody
- Anti-tissue transglutaminase antibody
- Anti-gliadin antibody

Front 113

What are the histologic findings in Celiac Sprue?

Back 113

- Blunting of villi
- Lymphocytes in lamina propria

Front 114

Which part of the GI tract has malabsorption in Celiac Sprue?

Back 114

Decreased mucosal absorption primarily affects distal duodenum and / or proximal jejunum

Front 115

How do you diagnose Celiac Disease?

Back 115

Presence of tissue transglutaminase antibodies in serum

Front 116

What kind of diarrhea occurs in disaccharidase deficiency (eg, lactase deficiency)?

Back 116

Osmotic diarrhea (too much water is drawn into the bowels)

Front 117

How do you diagnose a disacharidase deficiency (eg, lactase deficiency)?

Back 117

Lactose Tolerance Test is (+) for lactase deficiency, if:
- Administration of lactose produces symptoms AND
- Glucose rises <20 mg/dL

Front 118

What are the implications of a decreased ability to synthesize apolipoprotein B?

Back 118

Inability to generate chylomicrons → ↓ secretion of cholesterol, VLDL into bloodstream → fat accumulates in enterocytes

Abetalipoproteinemia (type of malabsorption disorder)

Front 119

How do you diagnose pancreatic insufficiency (malabsorption syndrome)?

Back 119

D-xylose absorption test:
- Normal urinary excretion in pancreatic insufficiency
- ↓ excretion with intestinal mucosa defects or bacterial overgrowth

Front 120

What are the types of Inflammatory Bowel Disease?

Back 120

- Crohn Disease
- Ulcerative Colitis

Front 121

How do Crohn Disease and Ulcerative Colitis compare in terms of possible etiology?

Back 121

- CD: disordered response to intestinal bacteria
- UC: auto-immune

Front 122

How do Crohn Disease and Ulcerative Colitis compare in terms of location of GI tract affected?

Back 122

- CD: any portion of GI tract, usually terminal ileum and colon, skip lesions with rectal sparing
- UC: colitis = colon inflammation, continuous colonic lesions always with rectal involvement

Front 123

How do Crohn Disease and Ulcerative Colitis compare in terms of the effect on the rectum?

Back 123

- CD: rectal sparing
- UC: always involves rectum

Front 124

How do Crohn Disease and Ulcerative Colitis compare in terms of the gross morphology?

Back 124

- CD: transmural inflammation → fistulas; cobblestone mucosa, creeping fat, bowel wall thickening ("string sign" on barium swallow x-ray), linear ulcers, and fissures
- UC: mucosal and submucosal inflammation only; friable mucosal pseudopolyps with freely hanging mesentery; loss of haustra → "lead pipe" appearance on imaging

Front 125

How do Crohn Disease and Ulcerative Colitis compare in terms of microscopic morphology?

Back 125

- CD: non-caseating granulomas and lymphoid aggregates (Th1 mediated)
- UC: crypt abscesses and ulcers, bleeding, no granulomas (Th2 mediated)

Front 126

How do Crohn Disease and Ulcerative Colitis compare in terms of potential complications?

Back 126

- CD: strictures (leading to obstruction), fistulas, perianal disease, malabsorption, nutritional depletion, colorectal cancer, and gallstones
- UC: malnutrition, sclerosing cholangitis, toxic megacolon, colorectal carcinoma (worse with R sided colitis or pancolitis)

Front 127

How do Crohn Disease and Ulcerative Colitis compare in terms of their intestinal manifestations?

Back 127

- CD: diarrhea that may or may not be bloody
- UC: bloody diarrhea

Front 128

How do Crohn Disease and Ulcerative Colitis compare in terms of their extra-intestinal manifestation?

Back 128

- CD: migratory polyarthritis, kidney stones
- UC: 1° sclerosing cholangitis,

- Both: pyoderma gangrenosum, erythema nodosum, ankylosing spondylitis, aphthous ulcers, uveitis

Front 129

How do Crohn Disease and Ulcerative Colitis compare in terms of their treatment?

Back 129

- CD: corticosteroids, azathioprine, methotrexate, infliximab, adalimumab
- UC: ASA preparations (sulfasalazine), 6-mercaptopurine, infliximab, colectomy

Front 130

What mnemonic can be used to remember the characteristics of Crohn's Disease?

Back 130

for CROHN, think of a FAT GRANny and an old CRONE SKIPping down a COBBLESTONE road away from the WRECK

- Crohn's disease
- Creeping fat
- Granulomas (non-caseating)
- Skip lesions
- Cobblestone mucosa
- Rectal sparing

Front 131

What mnemonic can be used to remember the characteristics of Ulcerative Colitis?

Back 131

UC causes ULCCCERS:
- Ulcers
- Large intestine
- Continuous
- Colorectal carcinoma
- Crypt abscesses
- Extends proximally
- Red diarrhea (bloody)
- Sclerosing cholangitis

Front 132

What is the possible etiology and location of the lesions in Crohn's Disease?

Back 132

- Disordered response to intestinal bacteria
- Any portion of GI tract can be affected, usually the terminal ileum and colon
- Skip lesions and rectal sparing

Front 133

What is the possible etiology and location of the lesions in Ulcerative Colitis?

Back 133

- Auto-immune etiology
- Inflammation of colon is continuous, always with rectal sparing

Front 134

What is the gross morphological appearance of Crohn's Disease?

Back 134

- Transmural inflammation → fistulas
- Cobblestone mucosa
- Creeping fat
- Bowel wall thickening ("string sign" on barium swallow x-ray)
- Linear ulcers
- Fissures

Front 135

What is the gross morphological appearance of Ulcerative Colitis?

Back 135

- Mucosal and submucosal inflammation ONLY
- Friable mucosal pseudopolyps with freely hanging mesentery
- Loss of haustra → lead pipe appearance on imaging

Front 136

What is the microscopic morphological appearance of Crohn's Disease?

Back 136

- Non-caseating granulomas
- Lymphoid aggregates
- Th1 mediated

Front 137

What is the microscopic morphological appearance of Ulcerative Colitis?

Back 137

- Crypt abscesses and ulcers
- Bleeding
- No granulomas
- Th2 mediated

Front 138

What are the potential complications of Crohn's Disease?

Back 138

- Strictures (leading to obstruction)
- Fistulas
- Perianal disease
- Malabsorption
- Nutritional depletion
- Colorectal cancer
- Gallstones

Front 139

What are the potential complications of Ulcerative Colitis?

Back 139

- Malnutrition
- Sclerosing cholangitis
- Toxic megacolon
- Colorectal carcinoma (worse with right-sided colitis or pancolitis)

Front 140

What are the intestinal manifestations of Crohn's Disease?

Back 140

Diarrhea that may or may not be bloody

Front 141

What are the intestinal manifestations of Ulcerative Colitis?

Back 141

Bloody diarrhea

Front 142

What are the extra-intestinal manifestations of Crohn's Disease?

Back 142

* Migratory polyarthritis
* Kidney stones
- Erythema nodosum
- Ankylosing spondylitis
- Pyoderma gangrenosum
- Aphthous ulcers
- Uveitis

* = unique to CD

Front 143

What are the extra-intestinal manifestations of Ulcerative Colitis?

Back 143

* 1° sclerosing cholangitis
- Pyoderma gangrenosum
- Erythema nodosum
- Ankylosing spondylitis
- Apthous ulcers
- Uveitis

* = unique to UC

Front 144

What are the treatment strategies for Crohn's Disease?

Back 144

- Corticosteroids
- Azathioprine
- Methotrexate
- Infliximab (TNF-α antibody)
- Adalimumab (TNF antibody)

Front 145

What are the treatment strategies for Ulcerative Colitis?

Back 145

- ASA preparations (sulfasalazine)
- 6-mercaptopurine
- Infliximab (TNF-α antibody)
- Colectomy

Front 146

Which form of IBD is characterized by Th1 mediated inflammation?

Back 146

Crohn's Disease

Front 147

Which form of IBD is characterized by Th2 mediated inflammation?

Back 147

Ulcerative Colitis

Front 148

Which form of IBD is characterized by skip lesions and rectal sparing?

Back 148

Crohn's Disease

Front 149

Which form of IBD is characterized by transmural inflammation?

Back 149

Crohn's Disease

Front 150

Which form of IBD is characterized by mucosal and submucosal inflammation?

Back 150

Ulcerative Colitis

Front 151

Which form of IBD is characterized by "string sign" on barium swallow x-ray?

Back 151

Crohn's Disease

Front 152

Which form of IBD is characterized by "lead pipe" appearance on imaging?

Back 152

Ulcerative Colitis

Front 153

Which form of IBD is characterized by non-caseating granulomas?

Back 153

Crohn's Disease

Front 154

Which form of IBD is characterized by crypt abscesses?

Back 154

Ulcerative Colitis

Front 155

Which form of IBD is characterized by fistulas?

Back 155

Crohn's Disease

Front 156

Which form of IBD is characterized by Sclerosing Cholangitis?

Back 156

Ulcerative Colitis

Front 157

Which form of IBD is characterized by bloody diarrhea?

Back 157

Ulcerative colitis always has bloody diarrhea; Crohn's may or may not have bloody diarrhea

Front 158

Which form of IBD can be associated with migratory polyarthritis?

Back 158

Crohn's Disease

Front 159

How do you diagnose Irritable Bowel Syndrome?

Back 159

Recurrent abdominal pain associated with ≥2 of the following:
- Pain improves with defecation
- Change in stool frequency
- Change in appearance of stool

Front 160

When is Irritable Bowel Syndrome most common?

Back 160

Middle-aged women

Front 161

What are the symptoms of Irritable Bowel Syndrome? Gross findings?

Back 161

- Diarrhea, constipation, or alternating symptoms
- No structural abnormalities; pathophysiology is multifaceted

Front 162

How do you treat Irritable Bowel Syndrome?

Back 162

Treat symptoms (diarrhea / constipation)

Front 163

What causes appendicitis?

Back 163

Acute inflammation of appendix due to obstruction by fecalith (in adults) or lymphoid hyperplasia (in children)

Front 164

What are the signs / symptoms of appendicitis?

Back 164

- Initial diffuse periumbilical pain migrates to McBurney point (1/3 distance from anterior superior iliac spine to umbilicus)
- Nausea
- Fever
- Psoas, Obturator, and Rovsing signs

Front 165

What is a potential complication of appendicitis?

Back 165

Perforation → Peritonitis

Front 166

What is included on a differential for appendicitis?

Back 166

- Diverticulitis (elderly)
- Ectopic pregnancy (use β-hCG to rule out)

Front 167

How do you treat appendicitis?

Back 167

Appendectomy

Front 168

What is this?

Back 168

Diverticulum: blind pouch

Front 169

What is a diverticulum?

Back 169

A blind pouch that protrudes from the alimentary tract and communicates with the lumen of the gut

Front 170

How do you get a diverticulum?

Back 170

Most (esophagus, stomach, duodenum, colon) are acquired and are termed "false" in that they lack or have an attenuated muscularis externa

Front 171

Where are most diverticulum found?

Back 171

Sigmoid colon

Front 172

What is the difference between a "true" and "false" diverticulum?

Back 172

- True: all 3 gut wall layers outpoutch (eg, Meckel)
- False: only mucosa and submucosa outpouch; occurs where vasa recta perforate muscularis externa

Front 173

What does "diverticulosis" mean? Cause?

Back 173

Many false diverticula (only mucosa and submucosa outpouch)
- Caused by ↑ intraluminal pressure and focal weakness in colonic wall
- Associated with low-fiber diets

Front 174

How common is diverticulosis?

Back 174

Common: in ~50% of people >60 years (associated with low fiber diets)

Front 175

What are the symptoms of a patient with diverticulosis (many false diverticula of colon)?

Back 175

- Often asymptomatic
- Can be associated with vague discomfort
- Common cause of hematochezia (passage of fresh blood through anus)

Front 176

What are the potential complications of diverticulosis (many false diverticula of colon)?

Back 176

- Diverticulitis: inflammation of diverticula (picture)
- Fistulas

Front 177

What should you consider in a patient presenting with LLQ pain, fever, and leukocytosis (looks like appendicitis but on left side)? What is the treatment?

Back 177

* Diverticulitis: inflammation of diverticula (most commonly in sigmoid colon - hence LLQ)
- Give antibiotics

Front 178

What are the potential complications of an inflamed diverticula (diverticulitis)?

Back 178

- Perforation → peritonitis
- Abscess formation
- Bowel stenosis

Front 179

What findings / complications might you see in a patient with diverticulitis?

Back 179

- Stool occult blood common +/- hematochezia (fresh blood passes through anus)
- Colovesical fistula (fistula with bladder) → pneumaturia (bubbles in urine)

Front 180

What diagnosis should you consider in an elderly male presenting with dysphagia, obstruction, and foul breath?

Back 180

Zenker Diverticulum

Front 181

What is the name of the pharyngoesophageal false diverticulum (only through mucosa and submucosa)?

Back 181

Zenker Diverticulum

Front 182

What is a Zenker Diverticulum? Location?

Back 182

- False diverticulum
- Pharyngoesophageal
- Herniation of mucosal tissue at Killian triangle between thyropharyngeal and cricopharyngeal parts of inferior pharyngeal constrictor

Front 183

What symptoms does a patient with a Zenker Diverticulum show? Who is most likely to get it?

Back 183

- Dysphagia
- Obstruction
- Foul breath from trapped food particles (halitosis)
- Most commonly in elderly males

Front 184

Which pathology is characterized by the five 2's: 2 inches long, 2 feet from the ileocecal valve, 2% of population, commonly presents in first 2 years of life, and may have 2 types of epithelia (gastric/pancreatic)?

Back 184

Meckel Diverticulum

Front 185

What is the term for the true diverticulum that forms because of the persistence of the vitelline duct?

Back 185

Meckel Diverticulum

Front 186

What is a Meckel Diverticulum? Cause?

Back 186

- True diverticulum
- Persistence of vitelline duct
- May contain ectopic acid-secreting gastric mucosa and/or pancreatic tissue

Front 187

What is the most common congenital anomaly of the GI tract?

Back 187

Meckel Diverticulum
- True diverticulum
- Persistence of vitelline duct
- May contain ectopic acid-secreting gastric mucosa and/or pancreatic tissue

Front 188

What should you suspect in a patient <2 years old with melena (dark sticky feces containing partly digested blood) and RLQ pain?

Back 188

Meckel Diverticulum

Front 189

What can Meckel Diverticulum cause?

Back 189

- Melena (dark sticky feces containing partially digested blood)
- RLQ pain
- Intussusception
- Volvulus
- Obstruction (near terminal ileum)

Front 190

What is the term for the cystic dilation of the vitelline duct?

Back 190

Omphalomesenteric Cyst

Front 191

How do you diagnose Meckel Diverticulum?

Back 191

Pertechnetate study - for uptake by ectopic gastric mucosa

Front 192

What is the mnemonic to remember the characteristics of the Meckel Diverticulum?

Back 192

Five 2's:
- 2 inches long
- 2 feet from ileocecal valve
- 2% of population (most common congenital anomaly of GI tract)
- Commonly presents in first 2 years
- May have 2 types of epithelia (gastric and/or pancreatic)

Front 193

Which pathology causes "currant jelly" stools?

Back 193

Intussusception

Front 194

What is the term for "telescoping" of 1 bowel segment into a distal segment? Most common location?

Back 194

Intussusception - commonly at ileocecal junction

Front 195

What are the consequences of Intussusception?

Back 195

- Compromised blood supply → intermittent abdominal pain
- Often with currant jelly stools

Front 196

Who is more likely to get Intussusception? Associated with?

Back 196

- Unusual in adults (associated with intraluminal mass or tumor that acts as lead point that is pulled into lumen)
- Majority of cases are in children (usually idiopathic, may be associated with recent enteric or respiratory viral infection)

Front 197

How severe is intussusception?

Back 197

Abdominal emergency in early childhood

Front 198

What is the term for the twisting of portions of the bowel around its mesentery?

Back 198

Volvulus

Front 199

What can Volvulus lead to?

Back 199

Obstruction and infarction

Front 200

Where can Volvulus occur? Who is more likely to get it?

Back 200

- Midgut volvulus: more common in infants and children
- Sigmoid volvulus: more common in elderly

Front 201

What diagnosis should you consider in a newborn (<48 hours) that has bilious emesis, abdominal distention, and a failure to pass meconium? Cause?

Back 201

Hirschsprung Disease (congenital megacolon)
- Lack of ganglion cells / enteric nervous plexuses (Auerbach and Meissner plexuses) in segment of intestine
- Due to failure of neural crest cell migration
- Associated with mutations in RET gene

Front 202

What genetic problem is Hirschsprung disease associated with?

Back 202

- Mutations in RET gene
- Risk ↑ with Down Syndrome

Front 203

What are the signs / symptoms of Hirschsprung disease?

Back 203

- Bilious emesis
- Abdominal distention
- Failure to pass meconium in first 48 hours = chronic constipation
- Dilated portion of colon proximal to aganglionic segment

Front 204

How do you diagnose Hirschsprung disease?

Back 204

Rectal suction biopsy - confirm the lack of ganglion cells / enteric nervous plexuses in segment of intestine

Front 205

How do you treat Hirschsprung disease?

Back 205

Resection of aganglionic portion of colon

Front 206

Which intestinal disorder is the most common cause of small bowel obstruction? Pathology?

Back 206

Intestinal Adhesion:
- Fibrous band of scar tissue
- Commonly after surgery
- Can have well-demarcated necrotic zones

Front 207

Which intestinal disorder causes tortuous dilation of vessels leading to hematochezia? Where is it found? How is diagnosis confirmed?

Back 207

Angiodysplasia
- Most often in cecum, terminal ileum, and ascending colon
- More common in older patients
- Confirmed by angiography

Front 208

Which intestinal disorder causes early bilious vomiting with a double bubble sign on x-ray? What is it associated with?

Back 208

Duodenal atresia
- Proximal stomach distention
- Failure of small bowel recanalization
- Associated with Down Syndrome

Front 209

Which intestinal disorder causes hypomotility? Signs? Causes?

Back 209

Ileus
- Hypomotility without obstruction → constipation and ↓ flatus
- Distended / tympanic abdomen with ↓ bowel sounds
- Associated with abdominal surgeries, opiates, hypokalemia, and sepsis

Front 210

Which intestinal disorder is associated with reduced intestinal blood flow? Location? Other?

Back 210

Ischemic Colitis
- Pain after eating → weight loss
- Commonly at splenic flexure (watershed zone) and distal colon
- Typically affects elderly

Front 211

Which intestinal disorder is associated with cystic fibrosis?

Back 211

Meconium Ileus
- Meconium plug obstructs intestine
- Prevents stool passage at birth

Front 212

Which intestinal disorder is more common in preemies? Why? Location?

Back 212

Necrotizing Enterocolitis
- Necrosis of intestinal mucosa and possible perforation
- More common in preemies because they have decreased immunity
- Colon is usually involved, but can involve entire GI tract

Front 213

What does an intestinal adhesion cause?

Back 213

- Fibrous band of scar tissue, commonly after surgery
- Most common cause of small bowel obstruction
- Can have well de-marcated necrotic zones

Front 214

What does angiodysplasia cause?

Back 214

- Tortuous dilation of vessels → hematochezia
- Most often found in cecum, terminal ileum, and ascending colon
- More common in older patients
- Confirmed by angiography

Front 215

What does duodenal atresia cause?

Back 215

- Causes early bilious vomiting with proximal stomach distention
- Double bubble sign on x-ray
- Due to failure of small bowel recanalization
- Associated with Down syndrome

Front 216

What does ileus cause?

Back 216

- Intestinal hypomotility without obstruction → constipation and ↓ flatus
- Distended / tympanic abdomen with ↓ bowel sounds
- Associated with abdominal surgeries, opiates, hypokalemia, and sepsis

Front 217

What does Ischemic Colitis cause?

Back 217

- Reduction in intestinal blood flow causes ischemia
- Pain after eating → weight loss
- Commonly occurs at splenic flexure and distal colon
- Typically affects elderly

Front 218

What does Meconium Ileus cause?

Back 218

- In cystic fibrosis, meconium plug obstructs intestine
- Prevents stool passage at birth

Front 219

What does Necrotizing Enterocolitis cause?

Back 219

- Necrosis of intestinal mucosa and possible perforation
- Colon is usually involved, but can involve entire GI tract
- In neonates, more common in preemies (↓ immunity)

Front 220

What is the term for masses that protrude into the gut lumen? Appearance?

Back 220

Colonic polyps - sawtooth appearance

Front 221

What are the types of colonic polyps?

Back 221

- Adenomatous
- Hyperplastic
- Juvenile
- Hamartomatous

Front 222

Are colonic polyps cancerous?

Back 222

90% are non-neoplastic

Front 223

Where are colonic polyps usually found?

Back 223

Rectosigmoid portion of colon

Front 224

What are the two histologic appearances of colonic polyps?

Back 224

- Tubular (left)
- Villous (right)

Front 225

Which type of colonic polyp is precancerous? What increases the malignant risk?

Back 225

Adenomatous Colonic Polyps
- ↑ Size
- Villous histology (more villous = more villainous)
- ↑ Epithelial dysplasia

Front 226

Which type of colonic polyp is a precursor or associated with increased risk of colorectal cancer?

Back 226

- Adenomatous = precursor to CRC
- Hamartomatous = increased risk of CRC

Front 227

What are the symptoms of adenomatous colonic polyps?

Back 227

- Often asymptomatic
- Lower GI bleed
- Partial obstruction
- Secretory diarrhea (villous adenomas)

Front 228

What is the most common non-neoplastic polyp in the colon? Location?

Back 228

Hyperplastic colonic polyps (>50% found in rectosigmoid colon)

Front 229

Which type of colonic polyp is seen in children <5 years old? Malignant potential? Location?

Back 229

Juvenile
- If single, no malignant potential
- Juvenile polyposis syndrome: multiple juvenile polyps in GI tract, ↑ risk of adenocarcinoma
- 80% in rectum

Front 230

Which type of colonic polyp is associated with increased risk of adenocarcinoma?

Back 230

Juvenile colonic polyp in Juvenile Polyposis Syndrome (multiple polyps)

Front 231

Which type of colonic polyp has an autosomal dominant inheritance pattern?

Back 231

Hamartomatous:
- Peutz-Jeghers Syndrome

Front 232

What are the signs/symptoms of Peutz-Jeghers Syndrome? How is it inherited?

Back 232

- Autosomal dominant syndrome
- Multiple non-malignant hamartomas throughout GI tract
- Hyperpigmented mouth, lips, hands, and genitalia
- Associated with ↑ risk of CRC and other visceral malignancies

Front 233

What are the characteristics of Adenomatous Colonic Polyps?

Back 233

- Adenomatous polyps are PRE-CANCEROUS
- Malignant risk associated with ↑ size, villous histology, and ↑ epithelial dysplasia
- Precursor to colorectal cancer (CRC)
- Polyp symptoms: asymptomatic, lower GI bleed, partial obstruction, or secretory diarrhea

Front 234

What are the characteristics of Hyperplastic Colonic Polyps?

Back 234

- Most common non-neoplastic polyp in colon
- >50% found in rectosigmoid colon

Front 235

What are the characteristics of Juvenile Colonic Polyps?

Back 235

- Mostly sporadic lesions in children <5 years old
- 80% in rectum
- If single, no malignant potential
- Juvenile Polyposis Syndrome: multiple juvenile polyps in GI tract, ↑ risk of adenocarcinoma

Front 236

What are the characteristics of Hamartomatous Colonic Polyps?

Back 236

Peutz Jeghers Syndrome
- Autosomal dominant
- Multiple non-malignant hamartomas throughout GI tract
- Hyperpigmented mouth, lips, hands, genitalia
- Associated with ↑ risk of CRC and other visceral malignancies

Front 237

What does this histology show?

Back 237

Tubular Adenoma
- Smaller, more rounded villi
- More likely to be benign colonic polyp

Front 238

What does this histology show?

Back 238

Villous Adenoma
- Long finger-like villi
- More likely to be malignant (villous = villainous)

Front 239

Who is most likely to get colorectal cancer?

Back 239

- Most patients >50 years
- 25% have a family history

Front 240

What genetic syndromes can contribute to Colorectal Cancer?

Back 240

- Familial Adenomatous Polyposis (FAP)
- Gardner Syndrome
- Turcot Syndrome
- Hereditary Non-Polyposis Colorectal Cancer (HNPCC / Lynch Syndrome)

Front 241

How are the different genetic syndromes that can cause Colorectal Cancer inherited?

Back 241

All Autosomal Dominant

Front 242

What mutation is responsible for Familial Adenomatous Polyposis (FAP)? Location?

Back 242

Autosomal Dominant mutation of APC gene on chromosome 5q
- Requires 2-hits

Front 243

If you have 2 hits of the mutated APC gene on chromosome 5q, what do you have? What will it cause?

Back 243

Familial Adenomatous Polyposis (FAP)
- 100% progress to Colorectal Cancer unless the colon is resected

Front 244

What are the signs of Familial Adenomatous Polyposis (FAP)?

Back 244

- Thousands of polyps arise starting at a young age
- Pancolonic
- Always involves RECTUM

Front 245

What is it called if you have Familial Adenomatous Polyposis (FAP) + osseous and soft tissue tumors, with congenital hypertrophy of retinal pigment epithelium?

Back 245

Gardner Syndrome

Front 246

What is it called if you have Familial Adenomatous Polyposis (FAP) + a malignant CNS tumor?

Back 246

Turcot Syndrome (think TURban)

Front 247

What mutation is responsible for Hereditary Non-Polyposis Colorectal Cancer (HNPCC / Lynch Syndrome)?

Back 247

Autosomal dominant mutation of DNA mismatch repair genes

Front 248

If you have a mutation of DNA mismatch repair genes, what do you have? What will it cause?

Back 248

Hereditary Non-Polyposis Colorectal Cancer (HNPCC / Lynch Syndrome)
- 80% progress to Colorectal Cancer (CRC)

Front 249

Which part of the colon is affected by Hereditary Non-Polyposis Colorectal Cancer (HNPCC / Lynch Syndrome)?

Back 249

Proximal colon is ALWAYS involved

Front 250

What mutations cause a predisposition for colorectal cancer?

Back 250

- Mutation of APC gene on chromosome 5q → Familial Adenomatous Polyposis (FAP) → 100% progress to CRC
- Mutation of DNA mismatch repair genes → Hereditary Non-Polyposis Colorectal Cancer (HNPCC / Lynch Syndrome) → 80% progress to CRC

Front 251

What is Gardner Syndrome?

Back 251

Familial Adenomatous Polyposis (FAP) + osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium

Front 252

What is Turcot Syndrome?

Back 252

Familial Adenomatous Polyposis (FAP) + malignant CNS tumor (TURcot = TURban)

Front 253

What are the risk factors for Colorectal Cancer?

Back 253

- Inflammatory Bowel Disease
- Tobacco use
- Large villous adenomas (polyps)
- Juvenile polyposis syndrome
- Peutz-Jeghers Syndrome (hamatromatous polyps)

Front 254

What part of the colon is most commonly affected by Colorectal Cancer?

Back 254

Rectosigmoid > Ascending > Descending

Front 255

What are the characteristics of Colorectal Cancer in the ascending colon?

Back 255

- Exophytic mass
- Iron deficiency anemia
- Weight loss

RIGHT SIDE BLEEDS, left side obstructs

Front 256

What are the characteristics of Colorectal Cancer in the descending colon?

Back 256

- Infiltrating mass
- Partial obstruction
- Colicky pain
- Hematochezia

Right side bleeds, LEFT SIDE OBSTRUCTS

Front 257

What is a rare presentation of Colorectal Cancer?

Back 257

Streptococcus bovis bacteremia
- S. bovis colonizes the gut
- Can also cause subacute endocarditis

Bovis in the Blood = Cancer in the Colon

Front 258

If you have a patient with iron deficiency anemia who is male or postmenopausal female, what must you rule out?

Back 258

Colorectal Cancer

Front 259

How should patients be screened for Colorectal Cancer?

Back 259

- Screen patients >50 years old
- Colonoscopy or stool occult blood test

Front 260

What finding occurs in Colorectal Cancer on barium enema x-ray?

Back 260

"Apple core" lesion

Front 261

Your patient gets a barium enema x-ray, and this is the finding in the sigmoid colon, what do you think of?

Back 261

Apple core lesion → think Colorectal Cancer

Front 262

What tumor marker is good for monitoring recurrence of Colorectal Cancer? Can it be used for screening?

Back 262

CEA tumor marker can be used to monitor for recurrence, but not useful for screening

Front 263

What are the two molecular pathways that lead to Colorectal Cancer? How common?

Back 263

- Microsatellite instability pathway (~15%)
- APC / β-catenin (chromosomal instability) pathway (~85%)

Front 264

What is wrong in the microsatellite instability pathway? What does it cause?

Back 264

- DNA mismatch repair gene mutations → sporadic and HNPCC syndrome
- Mutations accumulate, but no defined morphologic correlates
- Responsible for 15% of cases of CRC

Front 265

What is wrong in the APC/β-catenin pathway? What does it cause?

Back 265

- Chromosomal instability → sporadic cancer
- Responsible for 85% of cases of CRC

- Normal colon → loss of APC gene →
- Colon at risk → K-ras mutation →
- Adenoma → Loss of tumor suppressor gene(s) (p53, DCC) →
- Carcinoma

Front 266

What gene events occur in the APC/β-catenin pathway leading to colorectal cancer

Back 266

Order of gene events: AK-53

- Normal colon → loss of APC gene (↓ intercellular adhesion and ↑ proliferation) →
- Colon at risk → K-ras mutation (unregulated intracellular signal transduction) →
- Adenoma → Loss of tumor suppressor gene(s) (p53, DCC) (increased tumorigenesis) →
- Carcinoma

Front 267

What are the implications of the loss of the APC gene in the progression to colorectal cancer?

Back 267

- Decreased intercellular adhesions
- Increased proliferations
- Colon at risk

Front 268

What are the implications of the K-RAS mutation after loss of the APC gene in the progression to colorectal cancer?

Back 268

- Unregulated intracellular signal transduction
- At risk colon → Adenoma

Front 269

What are the implications of the loss of tumor suppressor genes (p53, DCC), after the K-RAS mutation and loss of the APC gene in the progression to colorectal cancer?

Back 269

- Increased tumorigenesis
- Adenoma → Carcinoma

Front 270

What are the signs of portal hypertension?

Back 270

- Esophageal varices → hematemesis and melena
- Peptic ulcer → melena
- Splenomegaly
- Caput medusae, ascites
- Portal hypertensive gastropathy
- Anorectal varices

Front 271

What are the signs of liver cell failure?

Back 271

- Hepatic encephalopathy
- Scleral icterus
- Fetor hepaticus (breath smells musty)
- Spider nevi (d/t ↑ Estrogen)
- Gynecomastia (d/t ↑ Estrogen)
- Jaundice
- Testicular atrophy (d/t ↑ Estrogen)
- Liver "flap" = asterixis (coarse hand tremor)
- Bleeding tendency (↓ clotting factors, ↑ prothrombin time)
- Anemia
- Ankle edema

Front 272

What is the term for the diffuse fibrosis and nodular regeneration that destroys the normal architecture of the liver?

Back 272

Cirrhosis

Front 273

What are the characteristics of cirrhosis?

Back 273

- Diffuse fibrosis
- Nodular regeneration
- Destroys normal architecture of liver

Front 274

What does cirrhosis put you at risk for?

Back 274

Increased risk for Hepatocellular Carcinoma (HCC)

Front 275

What are the most common causes of cirrhosis?

Back 275

- Alcohol (60-70%)
- Viral hepatitis
- Biliary disease
- Hemochromatosis

Front 276

What can alleviate portal hypertensino?

Back 276

Portosystemic shunts:
- Esophageal varices
- Caput medusae

Front 277

What are these signs indicative of?
- Esophageal varices
- Hematemesis
- Peptic ulcer
- Melena
- Splenomegaly
- Caput medusae, ascites
- Portal gastropathy
- Anorectal varices

Back 277

Portal Hypertension

Front 278

What are these signs indicative of?
- Hepatic encephalopathy
- Scleral icterus
- Fetor hepaticus (breath smells musty)
- Spider nevi
- Gynecomastia
- Jaundice
- Testicular atrophy
- Liver "flap" = asterixis (coarse hand tremor)
- Bleeding tendency (↓ clotting factors, ↑ prothrombin time)
- Anemia
- Ankle edema

Back 278

Liver cell failure

Front 279

What does this CT show?

Back 279

Nodularity (arrows) of the liver contour secondary to regenerating macronodules = Cirrhosis

Front 280

What does this slide show?

Back 280

Cirrhosis, microscopic: typical regenerative nodules (arrow 1) and bridging fibrosis (arrow 2)

Front 281

What are the serum markers of liver and pancreas pathology?

Back 281

- Alkaline phosphatase (ALP)
- Aminotransferases (AST and ALT) - often called liver enzymes
- Ceruloplasmin
- γ-Glutamyl Transpeptidase (GGT)
- Amylase
- Lipase

Front 282

What is the major diagnostic use of Alkaline Phosphatase (ALP)?

Back 282

- Obstructive hepatobiliary disease
- HCC
- Bone disease

Front 283

What is the major diagnostic use of Aminotransferases (AST and ALT) - often called "liver enzymes"?

Back 283

- Viral hepatitis (ALT > AST)
- Alcoholic hepatitis (AST > ALT)

Front 284

What is the major diagnostic use of Ceruloplasmin?

Back 284

↓ in Wilson Disease

Front 285

What is the major diagnostic use of γ-Glutamyl Transpeptidase (GGT)?

Back 285

↑ in various liver and biliary diseases (just as ALP can), but not in bone disease; associated with alcohol use

Front 286

What is the major diagnostic use of Amylase?

Back 286

- Acute pancreatitis
- Mumps

Front 287

What is the major diagnostic use of Lipase?

Back 287

Acute Pancreatitis (most specific)

Front 288

Which serum marker is most specific to acute pancreatitis?

Back 288

Lipase

Front 289

What can develop in children to take aspirin?

Back 289

Reye Syndrome - rare, often fatal childhood hepatoencephalopathy

Front 290

What are these findings associated with:
- Hepatoencephalopathy
- Mitochondrial abnormalities
- Fatty liver (microvesicular fatty change)
- Hypoglycemia
- Vomiting
- Hepatomegaly
- Coma

Cause?

Back 290

Reye Syndrome - associated with viral infection (especially VZV and influenza B) that has been treated with aspirin

Front 291

What is the mechanism by which aspirin causes Reye Syndrome?

Back 291

Aspirin metabolites ↓ β-oxidation by reversible inhibition of mitochondrial enzyme

Front 292

What are the signs of Reye Syndrome?

Back 292

- Hepatoencephalopathy (often fatal)
- Mitochondrial abnormalities
- Fatty liver (microvesicular fatty change)
- Hypoglycemia
- Vomiting
- Hepatomegaly
- Coma

Front 293

What is the only exception for use of aspirin in children?

Back 293

Kawasaki disease

Front 294

What are the stages of alcoholic liver disease?

Back 294

- Hepatic steatosis
- Alcoholic hepatitis
- Alcoholic cirrhosis

Front 295

What are the characteristics of Hepatic Steatosis?

Back 295

- First stage in alcoholic liver disease
- Reversible change with moderate alcohol intake
- Macrovesicular fatty changes that may be reversible with alcohol cessation

Front 296

What are the characteristics of Alcoholic Hepatitis?

Back 296

- Second stage in alcoholic liver disease
- Requires sustained, long-term consumption of alcohol
- Swollen and necrotic hepatocytes with neutrophilic infiltration
- Mallory bodies (intracytoplasmic eosinophilic inclusions) are present
- AST > ALT (ratio usually >1.5)

Front 297

What are the characteristics of Alcoholic Cirrhosis?

Back 297

- Final stage of alcoholic liver disease
- Irreversible changes
- Micronodular, irregularly shrunken liver with "hobnail" appearance
- Sclerosis around central vein (zone III)
- Has manifestations of chronic liver disease (eg, jaundice, hypoalbuminemia)

Front 298

When might you see macrovesicular fatty change in the liver?

Back 298

Macrovesicular fatty change is a sign of hepatic steatosis (stage 1 of alcoholic liver disease); reversible with alcohol cessation

Front 299

When might you see swollen and necrotic hepatocytes with neutrophilic infiltration and Mallory bodies?

Back 299

Alcoholic Heptitis (stage 2 of alcoholic liver disease)
- Mallory Bodies: intracytoplasmic eosinophilic inclusions

Front 300

When might you see a micronodular with a "hobnail" appearance?

Back 300

Alcoholic cirrhosis (stage 3 of alcoholic liver disease); irreversible and final form

Front 301

Where is there sclerosis in the liver with alcoholic cirrhosis?

Back 301

Around the central vein (zone III)

Front 302

What causes non-alcoholic fatty liver disease? What changes happen?

Back 302

Metabolic syndrome (insulin resistance) → fatty infiltration of hepatocytes → cellular "ballooning" and eventual necrosis

ALT > AST (lipids)
(independent of alcohol use)

Front 303

What can non-alcoholic fatty liver disease lead to?

Back 303

May cause cirrhosis and hepatocellular carcinoma

Front 304

What causes hepatic encephalopathy?

Back 304

Cirrhosis → portosystemic shunts → ↓ NH3 metabolism → neuropsychiatric dysfunction

Front 305

How severe is hepatic encephalopathy?

Back 305

Spectrum from disorientation / asterixis (mild) to difficult arousal or coma (severe)

Front 306

What an trigger hepatic encephalopathy?

Back 306

- ↑ NH3 production: dietary protein, GI bleed, constipation, infection
- ↓ NH3 removal: renal failure, diuretics, post-TIPS

Front 307

What can lead to ↑ NH3 production? Implications?

Back 307

- Dietary protein
- GI bleed
- Constipation
- Infection

- Can be a trigger for hepatic encephalopathy

Front 308

What can lead to ↓ NH3 removal? Implications?

Back 308

- Renal failure
- Diuretics
- Post-TIPS (Transjugular Intrahepatic Portosystemic Shunt)

Front 309

How do you treat patients with hepatic encephalopathy?

Back 309

- Lactulose (removes NH3 by converting to NH4+)
- Low protein diet
- Rifaximin (kills intestinal bacteria)

Front 310

What is the most common 1° malignant tumor of the liver in adults?

Back 310

Hepatocellular Carcinoma (HCC)

Front 311

What is Hepatocellular Carcinoma (HCC) associated with?

Back 311

- Hepatitis B & C
- Wilson disease
- Hemochromatosis
- α1-antitrypsin deficiency
- Alcoholic cirrhosis
- Aflatoxin from Aspergillus (carcinogen)

Front 312

What can Hepatocellular Carcinoma (HCC) lead to?

Back 312

Budd-Chiari Syndrome

- Caused by occlusion of the hepatic veins that drain the liver
- Presents with the classical triad of abdominal pain, ascites and hepatomegaly

Front 313

What are the findings in patients with Hepatocellular Carcinoma?

Back 313

- Jaundice
- Tender hepatomegaly
- Ascites
- Anorexia
- May lead to Budd-Chiari Syndrome

Front 314

How do you diagnose Hepatocellular Carcinoma (HCC)?

Back 314

- ↑ α-Fetoprotein
- Ultrasound
- Contrast CT (enhancing heterogenous mass)

Front 315

How does Hepatocellular Carcinoma (HCC) spread?

Back 315

Hematogenously

Front 316

What are the liver tumors?

Back 316

- Hepatocellular Carcinoma (most common)
- Cavernous Hemangioma
- Hepatic Adenoma
- Angiosarcoma

Front 317

What is the common, benign liver tumor that typically occurs at age 30-50 years?

Back 317

Cavernous Hemangioma

Front 318

What is the rare, benign liver tumor, often related to oral contraceptive or anabolic steroid use?

Back 318

Hepatic Adenoma

Front 319

What is the malignant liver tumor of endothelial origin associated with exposure to arsenic and vinyl chloride?

Back 319

Angiosarcoma

Front 320

What are the characteristics of Cavernous Hemangioma?

Back 320

- Common, benign liver tumor
- Typically occurs at age 30-50 years
- Biopsy contraindicated because of a risk of hemorrhage

Front 321

What are the characteristics of Hepatic Adenoma?

Back 321

- Rare, benign liver tumor
- Often related to oral contraceptive or anabolic steroid use
- May regress spontaneously or rupture (abdominal pain and shock)

Front 322

What are the characteristics of Angiosarcoma?

Back 322

- Malignant tumor of endothelial organ
- Associated with exposure to arsenic and vinyl chloride

Front 323

What causes the liver to have a "nutmeg" appearance?

Back 323

- Backup of blood into liver
- Commonly caused by R-sided heart failure and Budd-Chiari Syndrome
- Appears mottled by a nutmeg

Front 324

What can nutmeg liver progress to?

Back 324

If the condition persists, centrilobular congestion and necrosis can result in cardiac cirrhosis

Front 325

What causes Budd-Chiari Syndrome?

Back 325

Occlusion of IVC or hepatic vein with centrilobular congestion and necrosis

Front 326

What does Budd-Chiari Syndrome lead to?

Back 326

- Congestive liver disease → hepatomegaly, ascites, abdominal pain, and eventual live failure
- May develop varices
- May have visible abdominal and back veins

Front 327

What is Budd-Chiari Syndrome associated with?

Back 327

- Hypercoagulable states
- Polycythemia vera
- Pregnancy
- Hepatocellular Carcinoma (HCC)
- Absence of JVD

Front 328

How does α1-antitrypsin deficiency cause liver damage?

Back 328

Misfolded gene product protein aggregates in hepatocellular ER → cirrhosis

Front 329

What is the histologic finding of α1-antitrypsin deficiency in the liver?

Back 329

Cirrhosis with PAS (+) globules (made of aggregations of misfolded gene product)

Front 330

How do you inherit α1-antitrypsin deficiency?

Back 330

Codominant trait

Front 331

How does α1-antitrypsin deficiency affect other organs besides the liver?

Back 331

In lungs, ↓ α1-antitrypsin → uninhibited elastase in alveoli → ↓ elastic tissue → panacinar emphysema

Front 332

What causes jaundice?

Back 332

- Bilirubin deposition in the skin and/or sclera causing yellowing
- Occurs at high bilirubin levels (>2.5 mg/dL) in the blood 2° to ↑ production or defective metabolism

Front 333

How high does bilirubin need to be to cause jaundice?

Back 333

>2.5 mg/dL in blood

Front 334

What are the types of hyperbilirubinemia?

Back 334

- Unconjugated (indirect) hyperbilirubinemia
- Conjugated (direct) hyperbilirubinemia
- Mixed (direct and indirect) hyperbilirubinemia

Front 335

What is the level of urine urobilinogen in unconjugated (indirect) hyperbilirubinemia? What diseases have this finding?

Back 335

- Increased urine urobilinogen
- Diseases: hemolytic, physiologic (newborns), Crigler-Najjar, Gilbert syndrome

Front 336

What is the level of urine urobilinogen in conjugated (direct) hyperbilirubinemia? What diseases have this finding?

Back 336

- Decreased urine urobilinogen

Diseases:
- Biliary tract obstruction: gallstones, pancreatic liver cancer, liver fluke
- Biliary tract disease: 1° sclerosing cholangitis and 1° biliary cirrhosis
- Excretion defect: Dubin-Johnson syndrome, Rotor syndrome

Front 337

What is the level of urine urobilinogen in mixed (direct and indirect) hyperbilirubinemia? What diseases have this finding?

Back 337

- Normal or ↑
- Diseases: hepatitis or cirrhosis

Front 338

What type of hyperbilirubinemia is seen in patients with hemolysis?

Back 338

Unconjugated (indirect) hyperbilirubinemia
- ↑ urine urobilinogen

Front 339

What type of hyperbilirubinemia is seen in newborns?

Back 339

Physiologic (don't have enzymes to convert to conjugated form)
- Unconjugated (indirect) hyperbilirubinemia
- ↑ urine urobilinogen

Front 340

What type of hyperbilirubinemia is seen in patients with Crigler-Najjar syndrome?

Back 340

Unconjugated (indirect) hyperbilirubinemia
- ↑ urine urobilinogen

Front 341

What type of hyperbilirubinemia is seen in patients with Gilbert syndrome?

Back 341

Unconjugated (indirect) hyperbilirubinemia
- ↑ urine urobilinogen

Front 342

What type of hyperbilirubinemia is seen in patients with a biliary tract obstruction? What can cause this?

Back 342

Causes of biliary tract obstruction:
- Gallstones
- Pancreatic liver cancer
- Liver fluke

Conjugated (direct) hyperbilirubinemia
- ↓ urine urobilinogen

Front 343

What type of hyperbilirubinemia is seen in patients with a biliary tract disease? What can cause this?

Back 343

Causes of biliary tract disease:
- 1° sclerosing cholangitis
- 1° biliary cirrhosis

Conjugated (direct) hyperbilirubinemia
- ↓ urine urobilinogen

Front 344

What type of hyperbilirubinemia is seen in patients with an excretion defect? What can cause this?

Back 344

- Dubin-Johnson Syndrome
- Rotor Syndrome

Conjugated (direct) hyperbilirubinemia
- ↓ urine urobilinogen

Front 345

What type of hyperbilirubinemia is seen in patients with hepatitis and cirrhosis?

Back 345

Mixed (direct and indirect) hyperbilirubinemia
- Normal or ↑ urine urobilinogen

Front 346

What is the most common cause of jaundice in a neonate?

Back 346

Physiologic Neonatal Jaundice
- At birth, immature UDP-glucuronosyltrasnferase --> unconjugated hyperbilirubinemia --> jaundice / kernicterus

Front 347

How do you treat a neonate with physiologic jaundice?

Back 347

Phototherapy (converts unconjugated bilirubin to water-soluble form

Front 348

Which hereditary hyperbilirubinemia is associated with mildly DECREASED UDP-glucuronosyltransferase conjugation activity? What does this lead to?

Back 348

Gilbert Syndrome
- Decreased bilirubin uptake by hepatocytes
- Asymptomatic or mild jaundice (no clinical consequences)
- Elevated unconjugated bilirubin without overt hemolysis
- Bilirubin increases with fasting and stress

Front 349

Which hereditary hyperbilirubinemia is associated with ABSENT UDP-glucuronosyltransferase conjugation activity? What does this lead to?

Back 349

Crigler-Najjar Syndrome (type I)
- Presents early in life, patients die within a few years
- Causes jaundice, kernicterus (bilirubin depostion in brain), and ↑ unconjugated bilirubin

Front 350

Which hereditary hyperbilirubinemia is associated with a black liver? Why?

Back 350

Dubin-Johnson Syndrome
- Conjugated hyperbilirubinemia is due to defective liver excretion
- Benign

Front 351

Which hereditary hyperbilirubinemia causes a mild conjugated hyperbilirubinemia but without turning th eliver black?

Back 351

Rotor Syndrome

Front 352

Which syndrome causes bilirubin to increase with fasting or stress? Consequences?

Back 352

Gilbert Syndrome

- Mildly ↓ UDP-glucuronosyltransferase conjugation activity
- Leads to ↓ bilirubin uptake by hepatocytes
- Can be asymptomatic or cause mild jaundice
- Elevated unconjugated bilirubin without overt hemolysis

Front 353

What is wrong in Gilbert Syndrome? Symptoms? Other characteristics?

Back 353

- Very common, no clinical consequences
- Mildly ↓ UDP-glucuronosyltransferase conjugation activity
- Leads to ↓ bilirubin uptake by hepatocytes
- Can be asymptomatic or cause mild jaundice
- Elevated unconjugated bilirubin without overt hemolysis
- Bilirubin ↑ with fasting and stress

Front 354

What is wrong in Crigler-Najjar Syndrome, type 1? Symptoms? Other characteristics?

Back 354

- Absent UDP-glucuronosyltransferase
- Presents early in life, patients die within a few years
- Findings: jaundice, kernicterus (bilirubin deposition in brain), ↑ unconjugated bilirubin
- Treat with plasmapheresis and phototherapy

Front 355

What is wrong in Crigler-Najjar Syndrome, type 2? Symptoms? Other characteristics?

Back 355

- Type 2 is less severe
- Responds to phenobarbital which ↑ liver enzyme synthesis

Front 356

What is wrong in Dubin-Johnson Syndrome? Symptoms? Other characteristics?

Back 356

- Conjugated hyperbilirubinemia
- Due to defective liver excretion
- Grossly black liver
- Benign

Front 357

What is wrong in Rotor Syndrome? Symptoms? Other characteristics?

Back 357

- Similar to Dubin-Johnson Syndrome (problem with liver excretion of bilirubin)
- Mild conjugated hyperbilirubinemia
- Even milder, and doesn't cause black liver

Front 358

What does hemoglobin get converted to during its destruction? Where?

Back 358

Bilirubin - takes place in hepatic sinussoid

Front 359

Which hereditary syndromes cause a problem with bilirubin uptake and conjugation (1)? Leads to?

Back 359

Gilbert Syndrome
- Leads to unconjugated bilirubinemia

Front 360

Which hereditary syndromes cause a problem with bilirubin conjugation (2)? Leads to?

Back 360

Crigler-Najjar Syndrome
- Leads to unconjugated bilirubinemia

Front 361

Which hereditary syndromes cause a problem with conjugated bilirubin excretion (3) and (4)? Leads to?

Back 361

Dubin-Johnson Syndrome
- Leads to conjugated hyperbilirubinemia

Rotor Syndrome
- Leads to MILD conjugated hyperbilirubinemia

Front 362

What is the mnemonic to remember the characteristics of Wilson Disease (hepatolenticular degeneration)?

Back 362

Copper is Hella BAD:
- C: ↓ Ceruloplasmin, Cirrhosis, Corneal deposits (Kayser-Fleischer rings), Copper accumulations, Carcinoma (hepatocellular)
- H: Hemolytic anemia
- B: Basal ganglia degeneration (parkinsonian symptoms)
- A: Asterixis (tremor of the hand when the wrist is extended)
- D: Dementia, Dyskinesia, Dysarthria

Front 363

What causes Wilson Disease?

Back 363

Inadequate hepatic copper excretion and failure of copper to enter circulation as ceruloplasmin

Front 364

What are the implications of inadequate hepatic copper excretion and failure of copper to enter circulation as ceruloplasmin? Where does it go?

Back 364

Wilson Disease
- Leads to copper accumulation
- Especially in liver, brain, cornea (Kayser-Fleischer ring), kidneys, and joints

Front 365

How do you treat Wilson Disease?

Back 365

Penicillamine or Trientine

Front 366

How do you get Wilson disease?

Back 366

Autosomal recessive inheritance (chromsome 13 = 13 letters in Wilson disease)
- Copper is normally excreted into bile by hepatocyte copper transporting ATPase (ATP-7B gene)

Front 367

What is the mnemonic to remember the characteristics of Wilson Disease (hepatolenticular degeneration)?

Back 367

Copper is Hella BAD:
- C: ↓ Ceruloplasmin, Cirrhosis, Corneal deposits (Kayser-Fleischer rings), Copper accumulations, Carcinoma (hepatocellular)
- H: Hemolytic anemia
- B: Basal ganglia degeneration (parkinsonian symptoms)
- A: Asterixis (tremor of the hand when the wrist is extended)
- D: Dementia, Dyskinesia, Dysarthria

Front 368

What disease should you consider in a patient who is very tan with Diabetes Mellitus ("bronze Diabetes")? Cause?

Back 368

Hemochromatosis
- Disease caused by deposition of hemosiderin (iron)

Front 369

What is the classic triad in Hemochromatosis?

Back 369

- Micronodular Cirrhosis
- Diabetes mellitus
- Skin pegmentation

Front 370

What are the potential consequences of Hemochromatosis?

Back 370

- CHF
- Testicular atrophy
- ↑ Risk of HCC

Front 371

What can cause Hemochromatosis?

Back 371

- 1° - autosomal recessive C282Y or H63D mutation on HFE gene, associated with HLA-A3
- 2° - chronic transfusion therapy (eg, β-thalassemia major)

Front 372

What are the lab results in a patient with Hemochromatosis?

Back 372

- ↑ Ferritin
- ↑ Iron (may reach 50g, enough to set off metal detectors at airports)
- ↓ Total Iron Binding Capacity → ↑ Transferrin Saturation

Front 373

What mutation is responsible for hereditary hemochromatosis? What is it associated with?

Back 373

- C282Y or H63D mutation on HFE gene (autosomal recessive)
- Associated with HLA-A3

Front 374

Is hemochromatosis worse in young men or young women? Why?

Back 374

Young men - in women, iron can be lost through menstruation which slows the progression

Front 375

How do you treat hereditary hemochromatosis?

Back 375

- Repeated phlebotomy
- Deferasirox
- Deferoxamine

Front 376

What are the types of biliary tract diseases?

Back 376

- Primary Biliary Cirrhosis
- Secondary Biliary Cirrhosis
- Primary Sclerosing Cholangitis

Front 377

How do Primary Biliary Cirrhosis, Secondary Biliary Cirrhosis, and Primary Sclerosing Cholangitis present?

Back 377

Same presentation
- Pruritus
- Jaundice
- Dark urine
- Light stools
- Hepatosplenomegaly

Front 378

What is the pathologic cause of Primary Biliary Cirrhosis (PBC)?

Back 378

- Auto-immune reaction →
- Lymphocytic infiltrate + Granulomas →
- Destruction of intralobular bile ducts

Front 379

What is the pathologic cause of Secondary Biliary Cirrhosis (SBC)?

Back 379

- Extrahepatic biliary obstruction (gallstone, biliary stricture, chronic pancreatitis, carcinoma of pancreatic head) →
- ↑ Pressure in intrahepatic ducts →
- Injury / fibrosis and bile stasis

Front 380

What is the pathologic cause of Primary Sclerosing Cholangitis (PSC)?

Back 380

- Unknown cause of concentric "onion skin" bile duct fibrosis →
- Alternating strictures and dilation with "beading" of intra- and extra-hepatic bile ducts on ERCP

Front 381

Which biliary tract disease is complicated by ascending cholangitis?

Back 381

Secondary Biliary Cirrhosis

Front 382

Which biliary tract disease has ↑ serum mitochondrial antibodies, including IgM?

Back 382

Primary Biliary Cirrhosis

Front 383

Which biliary tract disease is associated with other auto-immune conditions? Which ones?

Back 383

Primary Biliary Cirrhosis is associated with:
- CREST syndrome
- Sjögren syndrome
- Rheumatoid arthritis
- Celiac disease

Front 384

Which biliary tract disease has hypergammaglobulinemia (IgM)?

Back 384

Primary Sclerosing Cholangitis

Front 385

Which biliary tract disease is associated with Ulcerative Colitis?

Back 385

Primary Sclerosing Cholangitis

Front 386

What can Primary Sclerosing Cholangitis progress to?

Back 386

- 2° biliary cirrhosis
- Cholangiocarcinoma

Front 387

Which biliary tract disease is associated with extrahepatic biliary obstruction (eg, gallstone, biliary stricture, chronic pancreatitis, or carcinoma of pancreatic head)? Presentation? Labs? Additional information?

Back 387

Secondary Biliary Cirrhosis
- Presentation: pruritus, jaundice, dark urine, light stools, hepatosplenomegaly
- Labs: ↑ conjugated bilirubin, ↑ cholesterol, ↑ ALP
- Additional: ↑ pressure in intrahepatic ducts → injury/fibrosis and bile stasis; complicated by ascending cholangitis

Front 388

Which biliary tract disease is associated with an auto-immune reaction, leading to a lymphocytic infiltrate and granulomas? Presentation? Labs? Additional information?

Back 388

Primary Biliary Cirrhosis
- Presentation: pruritus, jaundice, dark urine, light stools, hepatosplenomegaly
- Labs: ↑ conjugated bilirubin, ↑ cholesterol, ↑ ALP
- Additional: destruction of intralobular bile ducts; ↑ serum mitochondrial antibodies, including IgM; associated with other auto-immune conditions (eg, CREST, Sjögren syndrome, rheumatoid arthritis, and celiac disease)

Front 389

Which biliary tract disease is associated with "onion skin" bile duct fibrosis? Presentation? Labs? Additional information?

Back 389

Primary Sclerosing Cholangitis
- Presentation: pruritus, jaundice, dark urine, light stools, hepatosplenomegaly
- Labs: ↑ conjugated bilirubin, ↑ cholesterol, ↑ ALP
- Additional: alternating strictures and dilation with "beading" of intra- and extra-hepatic bile ducts on ERCP; hypergammaglobulinemia (IgM); associated with ulcerative colitis; can lead to 2° biliary cirrhosis and cholangiocarcinoma

Front 390

What is the term for the presence of gallstones?

Back 390

Cholelithiasis

Front 391

What is Cholelithiasis? What can cause them?

Back 391

Gallstones:
- ↑ cholesterol and/or bilirubin
- ↓ bile salts
- Gallbladder stasis

Front 392

What are the types of gallstones?

Back 392

- Cholesterol stones (80%)
- Pigment stones

Front 393

What increases your risk for gallstones?

Back 393

4 F's:
- Female
- Fat
- Fertile (pregnant)
- Forty

Front 394

What is associated with developing cholesterol stones?

Back 394

- Obesity
- Crohn Disease
- Advanced age
- Clofibrate
- Estrogen therapy
- Multiparity
- Rapid weight loss
- Native American origin

Front 395

What is associated with developing pigment stones?

Back 395

- Patients with chronic hemolysis
- Alcoholic cirrhosis
- Advanced age
- Biliary infection

Front 396

What is the appearance of cholesterol stones?

Back 396

Radiolucent w/ 10-20% opaque due to calcifications

Front 397

What is the appearance of pigment stones?

Back 397

- Black: radiopaque, hemolysis
- Brown: radiolucent, infection

Front 398

What can gallstones cause?

Back 398

- Cholecystitis (inflammation of gallbladder)
- Ascending cholangitis (infection of bile duct)
- Acute pancreatitis
- Bile stasis
- Biliary colic
- Fistula between gallbladder and small intestine
- Gallstone ileus

Front 399

What is the term for neurohormonal activation (by CCK after a fatty meal) that triggers contraction of the gallbladder, forcing a stone into the cystic duct, which may present with pain (eg, in diabetics)?

Back 399

Biliary Colic

Front 400

What is Biliary Colic?

Back 400

- Neurohormonal activation (by CCK after a fatty meal)
- Triggers contraction of the gallbladder
- Forces a stone into the cystic duct
- May present with pain (eg, in diabetics)

Front 401

In a patient with a history of gallstones, what may cause air in the biliary tree?

Back 401

Fistula between gallbladder and small intestine

Front 402

What causes gallstone ileus?

Back 402

Gallstone obstruction of the ileocecal valve

Front 403

How do you diagnose cholelithiasis? How do you treat?

Back 403

- Diagnose with ultrasound
- Treat with cholecystectomy if symptomatic

Front 404

What does this ultrasound show?

Back 404

Cholelithiasis (gallstones): distended gallbladder containing a large gallstone

Front 405

What is the triad of symptoms seen in cholangitis (infection of bile duct)?

Back 405

Charcot triad of cholangitis:
- Jaundice
- Fever
- RUQ pain

Front 406

What is the term for gallstones?

Back 406

Cholelithiasis

Front 407

What is the term for inflammation of the gallbladder?

Back 407

Cholecystitis

Front 408

What causes Cholecystitis?

Back 408

Usually from cholelithiasis (gallstone)
- Most commonly blocking the cystic duct → 2° infection
- Rarely ischemia or 1° infection (CMV)

Front 409

What physical exam test is present with Cholecystitis (inflammation of gallbladder)?

Back 409

Murphy Sign: inspiratory arrest on RUQ palpation d/t pain

Front 410

What is the Murphy Sign physical exam test? What does it indicate?

Back 410

- RUQ palpation, if there is pain patient will have inspiratory arrest
- Diagnostic of Cholecystitis

Front 411

How do you diagnose Cholecystitis?

Back 411

- Ultrasound
- HIDA
- Murphy's sign (+)

Front 412

When would you see a "porcelain" gallbladder?

Back 412

Chronic Cholecystitis (inflammation of gallbladder) - calcified gallbladder

Front 413

How is "porcelain" gallbladder usually detected? How do you treat?

Back 413

- Usually found incidentally on imaging
- Treat: prophylactic cholecystectomy d/t high rates of gallbladder carcinoma

Front 414

What are the possible causes of Acute Pancreatitis?

Back 414

GET SMASHED or idiopathic:
- Gallstones
- Ethanol
- Trauma

- Steroids
- Mumps
- Auto-immune disease
- Scorpion sting
- Hypercalcemia / Hypertriglyceridemia (>1000mg/dL)
- ERCP
- Drugs (eg, Sulfa drugs)

Front 415

What should you consider as a diagnosis in a patient with epigastric abdominal pain radiating to the back, with anorexia and nausea? How do you confirm diagnosis?

Back 415

Acute Pancreatitis
- ↑ Amylase and Lipase (higher specificity)

Front 416

What happens in acute pancreatitis? What can it lead to?

Back 416

- Auto-digestion of pancreas by pancreatic enzymes
- Can lead to DIC, ARDS, diffuse fat necrosis, hypocalcemia (Ca2+ collects in pancreatic Ca2+ soap deposits), pseudocyst formation, hemorrhage, infection, and multi-organ failure

Front 417

What are the potential complications of acute pancreatitis?

Back 417

Pancreatic pseudocyst (lined by granulation tissue, not epithelium; can rupture and hemorrhage)

Front 418

What are the possible causes of Acute Pancreatitis?

Back 418

GET SMASHED or idiopathic:
- Gallstones
- Ethanol
- Trauma

- Steroids
- Mumps
- Auto-immune disease
- Scorpion sting
- Hypercalcemia / Hypertriglyceridemia (>1000mg/dL)
- ERCP
- Drugs (eg, Sulfa drugs)

Front 419

What happens in chronic pancreatitis?

Back 419

- Chronic inflammation
- Atrophy
- Calcification of pancreas (image)

Front 420

What are the major causes of chronic pancreatitis?

Back 420

- Alcohol abuse
- Idiopathic

Front 421

What can chronic pancreatitis lead to?

Back 421

Pancreatic insufficiency → steatorrhea, fat-soluble vitamin deficiency, diabetes mellitus, and ↑ risk of pancreatic adenocarcinoma

Front 422

How do the levels of amylase and lipase compare in acute vs chronic pancreatitis?

Back 422

- Almost always elevated in acute pancreatitis
- May or may not be elevated in chronic pancreatitis

Front 423

What is the very aggressive tumor arising from the pancreatic ducts? Prognosis?

Back 423

Pancreatic Adenocarcinoma
- Average prognosis is 1 year
- Typically has already metastasized at presentation

Front 424

What is the histologic appearance of Pancreatic Adenocarcinoma?

Back 424

- Disorganized glandular structure with cellular infiltration
- Tumor arises from pancreatic ducts

Front 425

What part of the pancreas is typically affected by Pancreatic Adenocarcinoma? Consequences?

Back 425

Tumors more common in pancreatic head → obstructive jaundice

Front 426

What tumor marker is associated with Pancreatic Adenocarcinoma?

Back 426

CA-19-9 tumor marker (also CEA but less specific)

Front 427

What are the risk factors for Pancreatic Adenocarcinoma?

Back 427

- Tobacco use
- Chronic pancreatitis (especially >20 years)
- Diabetes
- Age > 50 years
- Jewish and African-American males

Front 428

How does Pancreatic Adenocarcinoma typically present?

Back 428

- Abdominal pain radiating to back
- Weight loss (d/t malabsorption and anorexia)
- Migratory thrombophlebitis (redness and tenderness on palpation of extremities = Trousseau syndrome)
- Obstructive jaundice w/ palpable non-tender gallbladder = Courvoisier sign

Front 429

What is Trousseau Syndrome? Sign of?

Back 429

Migratory Thrombophlebitis - redness and tenderness on palpation of extremities
- Sign of Pancreatic Adenocarcinoma

Front 430

What is Courvoisier Sign? Sign of?

Back 430

Obstructive jaundice with palpable, NON-TENDER gallbladder
- Sign of Pancreatic Adenocarcinoma

Front 431

How do you treat a patient with Pancreatic Adenocarcinoma?

Back 431

- Whipple procedure
- Chemotherapy
- Radiation therapy