Fa: Gastrointestinal - Pathology - 7

Front 1

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

Back 1

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 2

What causes Wilson Disease?

Back 2

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

Front 3

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

Back 3

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

Front 4

How do you treat Wilson Disease?

Back 4

Penicillamine or Trientine

Front 5

How do you get Wilson disease?

Back 5

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 6

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

Back 6

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 7

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

Back 7

Hemochromatosis
- Disease caused by deposition of hemosiderin (iron)

Front 8

What is the classic triad in Hemochromatosis?

Back 8

- Micronodular Cirrhosis
- Diabetes mellitus
- Skin pegmentation

Front 9

What are the potential consequences of Hemochromatosis?

Back 9

- CHF
- Testicular atrophy
- ↑ Risk of HCC

Front 10

What can cause Hemochromatosis?

Back 10

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

Front 11

What are the lab results in a patient with Hemochromatosis?

Back 11

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

Front 12

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

Back 12

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

Front 13

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

Back 13

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

Front 14

How do you treat hereditary hemochromatosis?

Back 14

- Repeated phlebotomy
- Deferasirox
- Deferoxamine

Front 15

What are the types of biliary tract diseases?

Back 15

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

Front 16

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

Back 16

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

Front 17

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

Back 17

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

Front 18

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

Back 18

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

Front 19

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

Back 19

- 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 20

Which biliary tract disease is complicated by ascending cholangitis?

Back 20

Secondary Biliary Cirrhosis

Front 21

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

Back 21

Primary Biliary Cirrhosis

Front 22

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

Back 22

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

Front 23

Which biliary tract disease has hypergammaglobulinemia (IgM)?

Back 23

Primary Sclerosing Cholangitis

Front 24

Which biliary tract disease is associated with Ulcerative Colitis?

Back 24

Primary Sclerosing Cholangitis

Front 25

What can Primary Sclerosing Cholangitis progress to?

Back 25

- 2° biliary cirrhosis
- Cholangiocarcinoma

Front 26

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 26

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 27

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

Back 27

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 28

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

Back 28

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 29

What is the term for the presence of gallstones?

Back 29

Cholelithiasis

Front 30

What is Cholelithiasis? What can cause them?

Back 30

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

Front 31

What are the types of gallstones?

Back 31

- Cholesterol stones (80%)
- Pigment stones

Front 32

What increases your risk for gallstones?

Back 32

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

Front 33

What is associated with developing cholesterol stones?

Back 33

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

Front 34

What is associated with developing pigment stones?

Back 34

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

Front 35

What is the appearance of cholesterol stones?

Back 35

Radiolucent w/ 10-20% opaque due to calcifications

Front 36

What is the appearance of pigment stones?

Back 36

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

Front 37

What can gallstones cause?

Back 37

- 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 38

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 38

Biliary Colic

Front 39

What is Biliary Colic?

Back 39

- 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 40

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

Back 40

Fistula between gallbladder and small intestine

Front 41

What causes gallstone ileus?

Back 41

Gallstone obstruction of the ileocecal valve

Front 42

How do you diagnose cholelithiasis? How do you treat?

Back 42

- Diagnose with ultrasound
- Treat with cholecystectomy if symptomatic

Front 43

What does this ultrasound show?

Back 43

Cholelithiasis (gallstones): distended gallbladder containing a large gallstone

Front 44

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

Back 44

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

Front 45

What is the term for gallstones?

Back 45

Cholelithiasis

Front 46

What is the term for inflammation of the gallbladder?

Back 46

Cholecystitis

Front 47

What causes Cholecystitis?

Back 47

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

Front 48

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

Back 48

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

Front 49

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

Back 49

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

Front 50

How do you diagnose Cholecystitis?

Back 50

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

Front 51

When would you see a "porcelain" gallbladder?

Back 51

Chronic Cholecystitis (inflammation of gallbladder) - calcified gallbladder

Front 52

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

Back 52

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