Medicine · Liver Disease (Cirrhosis, Hepatitis, Autoimmune, Wilson's, Hemochromatosis)

A 30-year-old man presents with acute hepatitis, hemolytic anemia (Coombs negative), neuropsychiatric symptoms, and a low serum ceruloplasmin (<10 mg/dL). Slit-lamp examination reveals Kayser-Fleischer rings. What is the mechanism of hemolysis in Wilson disease?

  • A Direct toxic effect of copper on RBC membranes causing oxidative lysis
  • B Autoimmune hemolysis mediated by anti-RBC antibodies
  • C G6PD deficiency-like enzyme inhibition by copper
  • D Hypersplenism from portal hypertension
Correct answer: A. Direct toxic effect of copper on RBC membranes causing oxidative lysis

Explanation

In Wilson disease, copper accumulates in hepatocytes and when hepatic storage capacity is overwhelmed, copper is released into the bloodstream causing direct oxidative damage to red cell membranes, resulting in Coombs-negative non-immune hemolytic anemia. This is a characteristic feature of acute hepatic decompensation in Wilson disease ("acute Wilson presentation"). The hemolysis is Coombs-negative (differentiating it from autoimmune causes), and elevated serum copper/urine copper confirm the diagnosis. The acute presentation of Wilson disease with hemolysis and acute liver failure carries a poor prognosis without liver transplantation.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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