HemeOnc

Wilson Disease

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Wilson Disease, Wilson's Disease, Hepatolenticular Degeneration

  • Pathophysiology
  1. Autosomal Recessive disease
  2. Defect in copper excretion into bile
  3. Copper accumulates from ceruloplasmin cleavage
    1. Initially excessive copper accumulates in liver
    2. Later Copper enters blood when liver storage exceeded
    3. Deposits in extrahepatic sites: brain, eye, Kidney
  • Epidemiology
  1. Rare Incidence
  2. Usually diagnosed between ages 5 to 40 years old
  • Common presentations
  1. Mild Liver Function Test Abnormality
  2. Asymptomatic Hepatomegaly
  3. Neurologic change
  4. Fulminant Hepatitis with Hemolysis
  • Signs
  1. Eye
    1. Mask-like stare
    2. Kaiser-Fleischer rings on Slit Lamp exam
      1. Green, golden, or smoky brown Corneal ring
  2. Skin
    1. Brown Skin Discoloration
    2. Jaundice
    3. Peripheral Edema
    4. Vascular Spiders
  3. Neurologic signs
    1. Resting Tremor (pill-rolling)
    2. Wing-beating Tremor
    3. Intention Tremor
    4. Spasticity
    5. Rigidity
    6. Choreiform movements
    7. Drooling
    8. Dysphagia
    9. Dysarthria
    10. Dystonia
  4. Abdomen
    1. Ascites
    2. Hepatomegaly
  5. Psychiatric signs
    1. Schizophrenia
    2. Manic Depression
    3. Neuroses
  • Labs
  1. Serum Ceruloplasmin < 200 mg/L
  2. Urinary copper elevated
  3. Liver biopsy
    1. Hepatic tissue copper present >250 ug/g dry weight
    2. Hepatic tissue inflammation, fibrosis or necrosis
    3. May show Cirrhosis
  • Management
  1. Penicillamine