Liver II Flashcards
A 4 year old boy presents to the pediatrician with dementia, and some behavioral changes. Physical exam shows he as cirrhosis and there are distinct rings in his cornea. What does he have? How is this disease inherited? What gene is implicated?
He has Wilson disease which is an autosomal recessive defect (ATP7B gene) in ATP-mediated hepatocyte copper transport which results in lack of copper transport into bile and lack of copper incorporation into ceruloplasmin.
What causes tissue damage in Wilson disease? What are the lab values of urinary copper, serum ceruloplasmin and copper on liver biopsy?
Copper builds up in hepatocytes, leaks into serum and deposits in tissues. Copper-mediated production of hydroxyl free radicals leads to tissue damage. Labs show increased urinary copper, decreased serum ceruloplasmin and increased copper on liver biopsy.
What causes tissue damage in Wilson disease? What are the lab values of urinary copper, serum ceruloplasmin and copper on liver biopsy?
Copper builds up in hepatocytes, leaks into serum and deposits in tissues. Copper-mediated production of hydroxyl free radicals leads to tissue damage. Labs show increased urinary copper, decreased serum ceruloplasmin and increased copper on liver biopsy.
What does Wilson disease increase the risk of? How is it treated?
Increased risk of hepatocellular carcinoma. Treatment is D-penicillamine (chelates copper)
What is primary biliary cirrhosis and how does it present? Which population does it usually target? What is it associated with? What marker is present? What is a late complication?
Autoimmune granulomatous destruction of intrahepatic bile ducts and presents with features of obstructive jaundice. Classically arises in women (average age is 40 years). Associated with other autoimmune diseases. Antimitochondrial antibody is present. Cirrhosis is a late complication.
What is primary sclerosing cholangitis and how does it present? How does it look like on histology? What is it associated with? What marker is present? What is a late complication? What is there an increased risk of?
Inflammation and fibrosis of intrahepatic and extrahepatic bile ducts. Periductal fibrosis with an ‘onion-skin’ appearance. Associated with ulcerative colitis. p-ANCA is often positive. Presents with features of obstructive jaundice. Cirrhosis is a late complication. Increased risk for cholangiocarcinoma.
What is primary sclerosing cholangitis and how does it present? How does it look like on histology? What is it associated with? What marker is present? What is a late complication? What is there an increased risk of?
Inflammation and fibrosis of intrahepatic and extrahepatic bile ducts. Periductal fibrosis with an ‘onion-skin’ appearance. Associated with ulcerative colitis. p-ANCA is often positive. Presents with features of obstructive jaundice. Cirrhosis is a late complication. Increased risk for cholangiocarcinoma.
What would you see on imaging of primary sclerosing cholangitis? Histology?
Beaded appearance on contrast imaging. Periductal fibrosis with an ‘onion-skin’ appearance.
A 2 year old comes to the ED with hypoglycemia, elevated liver enzymes and nausea with vomiting. His mom mentions that she gave him some Aspirin because he had the flu virus. What is causing his presentation? Which cells are damaged and which organelle? What is a feared complication?
Reye syndrome with fulminant liver failure and encephalopathy in children with viral illness who take aspirin. Related to mitochondrial damage of hepatocytes.Coma and death.
What is hepatic adenoma associated with? How does it regress? How do the tumors grow?What does it increase the risk of?
Associated with oral contraceptive use. Regresses upon cessation of drug. Risk of rupture and intraperitoneal bleeding, especially during pregnancy. Tumors are subcapsular and grow with exposure to estrogen.
What is hepatic adenoma associated with? How does it regress? How do the tumors grow and where are they found? What does it increase the risk of?
Associated with oral contraceptive use. Regresses upon cessation of drug. Risk of rupture and intraperitoneal bleeding, especially during pregnancy. Tumors are subcapsular and grow with exposure to estrogen.
What is hepatocellular carcinoma and what are the risk factors?
Malignant tumor of hepatocytes. Risk factors include 1. Chronic hepatitis 2. Cirrhosis 3. Aflatoxins derived from Aspergillus (induce p53 mutations)
A patient with hepatocellular carcinoma presents with painful hepatomegaly and ascites. What syndrome is this indicative of? What structures are affected?
Budd-Chiari syndrome which is liver infarction secondary to hepatic vein obstruction.
What is the prognosis for hepatocellular carcioma? What is the serum marker?
Hepatocellular carcinoma. Serum tumor marker is alpha-fetoprotein.
What are the most common sources of metastasis to liver? What does it result in? How can ou detect it clinically?
Colon, pancreas, lung and breast carcinoma. Results in multiple nodules in the liver. Clinically may be detected as hepatomegaly with a nodular free edge of the liver.
