GI

Question 1

40 yo F with pruritus, fatigue and jaundice, elevated ALP and positive antimitochondrial antibodies. Dx & Mx?

Answer 1

Primary Biliary Cholangitis

Ursodeoxycholic

Question 2

40 yo F with pruritus, fatigue and jaundice. Hx IBD. Elevated ALP. Dx

Answer 2

Primary Sclerosing Cholangitis

Question 3

What symptoms do you have with hereditary hemochromatosis?

What inv are needed?

What complications are you worried about?

What is the mx?

Answer 3

1) Bronze DM, cirrhosis, arthritis, low libido and impotence
2) Check ferritin and transferrin saturation: ferritin high [>1000s], transferrin saturation high. Positive HFE mutation
3) Liver cirrhosis & failure, hepatocellular carcinoma
4) Repetitive phlebotomies

Question 4

1) What s&s do you see with Wilson’s dz?
2) What inv would you order to dx it?
3) What complications are you worried about?

Answer 4

1) Kayser-Fleischer ring, CNS: dystonia, psych, cerebellar ataxia, parkinsoniasm, cirrhosis, cardiomyopathy, hemolytic anemia
2) urinary copper 24h [high], serum ceruloplasmin [low], ATP7B
3) Liver failure, hepatocellular carcinoma