14.Liver-2

Question 1

A 42 year old comes to the doctor because of “progressive yellowing of her skin” a biopsy is done showing no liver damage but non suppurative, granulomatous destruction of small and medium sized bile ducts is noted. If she is tested for antibodies what would you most likely expect to be positive ?

A.  Anti Nuclear
B. Anti Smooth muscle 
C. Anti- LKM 
D. Antimitochondrial 
E. P-Anca

RFA

Answer 1

Ans. D. Antimitochondrial -non suppurative, granulomatous destruction of small and medium sized bile ducts is noted is the hallmark of Primary biliary cholangitis in which antimitochondrial antibodies re found in 90% of cases

A. Anti- Nuclear- would be found in adult autoimmune hepatitis, no liver damage noted so it is this

B. Anti Smooth muscle- would be found in adult autoimmune hepatitis, no liver damage noted so it is this

C.Anti-LKM- would be found in child/teen autoimmune hepatitis, no liver damage noted so it is this

E. P-Anca- is found primary sclerosing cholangitis but since there is no evidence of “onion skin” lesions or dilation of biliary tree not the best answer. Also associated with ulcerative colitis . ANCA is found in 40% of PBC patients also but it isn’t the best answer

Question 2

A 22 year old man comes to his doctor with complaints of fatigue, abdominal pain, weakness and weight loss. Labs are run which are notable for significantly elevated AFP. Examination is done finding a single hard tumor with fibrous bands. Biopsy is done finding polygonal cells in cords. What is this diagnosis associated with?

A. Fusion of DNAJB1 and PRKACA genes
B. HBV
C. Alcoholic cirrhosis 
D. Mutation in hepatocyte nuclear factor 1a 
E. Homozygosity for mutant Pizz

RFA

Answer 2

Ans. A- The patient has Fibrolamellar variant HCC which is related to fusion of DNAJB1 and PRKACA genes

B. HBV- the patient has the Fibrolamellar variant of HCC ( large single hard tumor) which unlike normal HCC is not associated with HBV

C. Alcoholic cirrhosis-the patient has the Fibrolamellar variant of HCC ( large single hard tumor) which unlike normal HCC is not associated with Alcoholic cirrhosis

D. Mutation in hepatocyte nuclear factor 1a- is related to Hepatic adenoma (rich fat) carcinoma and has a minimal risk of HCC progression ( Mutation in B-catenin( Cytologic atypia) has the greatest, with Mutation in IL-6 (sinusoidal dilatation) the second)

E. Homozygosity for mutant Pizz- would cause alpha-1 antitrypsin deficiency