Wilson Disease

Wilson Disease (≈ up to p. 701)

• When to suspect: Particularly in patients younger than 40 with unexplained liver disease.

• Diagnostic evaluation:

  • Ceruloplasmin: Low or normal; note ceruloplasmin may be elevated in acute inflammation.

  • Other tests: 24-hour urinary copper excretion, slit-lamp exam for Kayser–Fleischer rings, serum copper levels, and ATP7B genetic testing.

  • Wilson Disease

    Basic Science & Pathophysiology

    • Genetics: Autosomal recessive ATP7B mutation impairs copper excretion, leading to accumulation in liver, brain, cornea, kidneys. >300 mutations; most patients are compound heterozygotes.

    • Pathology: Copper buildup causes oxidative damage, hepatocellular injury, fibrosis, and neuropsychiatric manifestations.

    Epidemiology & Clinical Presentation

    • Prevalence: ~1 per 30,000; onset typically in childhood or young adulthood.

    • Clinical overlap:

      • Hepatic: Jaundice, fatigue, hepatic encephalopathy, low ALP, hemolysis, portal hypertension, ascites, splenomegaly.

      • Neurologic/Psychiatric: Tremor, dysarthria, mood/personality changes, hallucinations. Late onset compared to hepatic symptoms.

    Diagnosis

    • Labs: Low ceruloplasmin; low serum copper; elevated 24-hour urinary copper (>100 µg/day confirms; >40 µg indicative).

    • Ocular exam: Kayser–Fleischer rings via slit-lamp; sometimes sunflower cataracts.

    • Biopsy: Hepatic copper quantification most accurate.

    • Other: MRI brain may show basal ganglia changes (“face of the giant panda” pattern).

    Treatment & NP Role

    • Chelation: D-penicillamine or trientine to enhance copper excretion.

    • Zinc therapy: Inhibits copper absorption—a maintenance strategy or adjunct.

    • Transplant: Indicated for fulminant disease or advanced cirrhosis.

    • Monitoring: Lifelong therapy and monitoring of liver and neurologic status are critical.