Gastroenterology Book

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Wilson's DiseaseAka: Hepatolenticular Degeneration

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  1. 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
  2. Epidemiology
    1. Usually diagnosed under age 40 years
  3. Common presentations
    1. Mild Liver Function Test Abnormality
    2. Asymptomatic Hepatomegaly
    3. Neurologic change
    4. Fulminant Hepatitis with Hemolysis
  4. 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. Intention Tremor
      3. Spasticity
      4. Rigidity
      5. Choreiform movements
      6. Drooling
      7. Dysphagia
      8. Dysarthria
      9. Dystonia
    4. Abdomen
      1. Ascites
      2. Hepatomegaly
    5. Psychiatric signs
      1. Schizophrenia
      2. Manic Depression
      3. Neuroses
  5. 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
  6. Management
    1. Penicillamine

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