Fa: Gastrointestinal - Pathology - 7A

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