Gastroenterology
Metabolic & Autoimmune Liver Disease
Gastroenterology

Metabolic & Autoimmune Liver Disease

Wilson, hemochromatosis, PBC, PSC.

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◆Wilson disease

  • •Autosomal recessive ATP7B mutation → impaired copper excretion
  • •Hepatitis + neuropsychiatric (tremor, dystonia, mood) + Kayser-Fleischer rings
  • •Low ceruloplasmin + high 24-hr urine copper
  • •Treat: penicillamine or trientine + zinc
  • •Liver transplant for fulminant or end-stage

◆Hereditary hemochromatosis

  • •HFE C282Y mutation (autosomal recessive)
  • •Bronze diabetes: bronze skin + DM + cirrhosis + arthralgias + cardiomyopathy
  • •Transferrin saturation >45% + ferritin >300 (M) or >200 (F)
  • •Confirm with genetic testing
  • •Treat: therapeutic phlebotomy

◆Primary biliary cholangitis (PBC)

  • •Middle-aged women
  • •Fatigue + pruritus + jaundice + ↑alk phos + ↑IgM
  • •Anti-mitochondrial antibody (AMA) is hallmark
  • •Treat: ursodeoxycholic acid (UDCA); obeticholic acid if refractory
  • •Cholestyramine for pruritus

◆Primary sclerosing cholangitis (PSC)

  • •Young men with UC
  • •MRCP: beaded biliary strictures
  • •p-ANCA may be positive
  • •Risk of cholangiocarcinoma + colon cancer (do CRC surveillance)
  • •Liver transplant for end-stage
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