Chapter 14: Liver Iron Overload Flashcards
A 50 year old male presents with cirrhosis, diabetes, skin pigmentation, and cardiac failure.
Serum iron is 160 g/dL and transferrin is 100% saturated. Blood ferritin is greatly elevated.
A liver biopsy is done and stained with prussian blue.
Hereditary Hemochromatosis - autosomal recessive.
Prussian blue stains iron.
Liver, skin, pancreas, heart, endocrine, and joint complications. Cirrhosis -> hepatocellular carcinoma.
Iron mainly absorbed in the duodenum.
HFE regulates iron delivery to the cytoplasm - binds transferin receptor. Mutated in this disease, duodenal crypt cells upregulate DMT-1 and ferroportin, increase absorption. Depressed hepcidin doesn’t stop accumulation.
A chronic alcoholic with a past medical history of sickle cell anemia presents with abnormal laboratory tests. Hiw transferrin is saturated. Biopsy shows shows positive prussian blue staining in hepatocytes. Biopsy from other areas shows accumulation in macrophages.
Secondary iron overload.
Hemolytic anemias - sickle cell, thalassemia major, other anemias with ineffective erythropoiesis.
A patient presents with elevated LFT’s, incoordination, and tremor.
Wilson Disease (Hepatolenticular degeneration) caused by copper overload.
Kayser-Fleischer: Golden brown corneal discolored rings in eyes.
Mutations in ATP7B impair copper transport for excretion in bile and complex with ceruloplasmin.
Osteomalacia, osteoporosis, fractures, arthropathies. Glomerular and tubular dysfunction. Hemolytic episodes.
An infant with CF dies with hepatic failure.
Biliary obstruction - can then cause secondary biliary cirrhosis. UDCA therapy.
CFTR is expressed in biliary epithelial cells, accumulation of tenacious mucinous plugs in intrahepatic tree.
A patient with a history of non-smoking emphysema presents with elevated LFTs.
A liver biopsy is taken and shows cirrhosis. A histological section is taken and stained with PAS.
Alpha-1 antitrypsin deficiency leads to cirrhosis. Autosomal recessive - emphysema.
A protease inhibitor that deactivates neutrophil elastase (serpin). PAS shows cytoplasmic glubules in the hepatocytes. ZZ genotype. High incidence of hepatocellular carcinoma.
A patient with a diagnosed glycogen storage disorder presents with hepatomegaly at age 4 and dies of cirrhosis.
Glycogenosis type IV (Brancher deficiency, Anderson disease).
Only glycogen storage disease usually complicated by cirrhosis.
Slowly developing cirrhosis in glycogenosis type III (Debrancher disease, Cori disease)
Type I: Distended by large amounts of glycogen, seen with PAS. Adenomas develop but regress with dietary therapy.
A neonate presents after 2 weeks of birth with extensive liverfat accumulation and bile ductule proliferation with cholestasis.
By six weeks, fibrosis extends from portal tracts into lobules and progresses to cirrhosis by 6 months.
An inborn error in galactose-1-phosphate uridyl transferase is found and a galactose free diet improves the disease.
Galactosemia
An infant presents with hepatomegaly, jaundice, and ascites by six months. A fructose free diet improves the condition.
Hereditary fructose intolerance caused by deficiency of fructose-1-phosphate aldolase.
A patient presents with growth retardation, renal disease, and hepatic failure in the first year of life.
He has a high risk for hepatocellular carcinoma.
Tyrosinemia - liver transplant.
What type of liver injury is seen in acetaminophen overdose?
Centrilobular necrosis. Very high doses - panlobular necrosis. Either die in acute liver failure or recover without sequelae.
A child with a recent history of influenza and aspirin administration presents with hepatic failure and encephalopathy.
Reye syndrome - microvesicular steatosis, hepatic failure, encephalopathy. Edema and fat in brain.
