Wilson’s Disease (Hepatolenticular Degeneration)

• Genetics: Chromosome 13 ATP7B (P type ATPase) Decreases incorporation of copper into apoceruloplasmin and biliary secretion

• Prevalence 1:30,000 more common in Sardinia, El Salvador

• Clinical Manifestations: presents in adolescence rare>40

• Hepatic: Chronic Hepatitis (dx AIH), Cirrhosis, Fulminant Hepatitis

• Neuropsychiatric: Extrapyramidal signs (tremor, rigidity, bradykinesia), cognitive decline, risus sardonicus

• Ocular: Kayser-Fleischer rings, Sunflower cataracts

• Hematological: Hemolysis, Coagulopathy

• Renal: Proximal RTA (Fanconi), ARF

• MS: Chondrocalcinosis