II. Pathophysiology
- Autosomal Recessive disease
- Defect in copper excretion into bile
- Copper accumulates from ceruloplasmin cleavage
- Initially excessive copper accumulates in liver
- Later Copper enters blood when liver storage exceeded
- Deposits in extrahepatic sites: brain, eye, Kidney
III. Epidemiology
- Rare Incidence
- Usually diagnosed between ages 5 to 40 years old
IV. Common presentations
- Mild Liver Function Test Abnormality
- Asymptomatic Hepatomegaly
- Neurologic change
- Fulminant Hepatitis with Hemolysis
V. Signs
- Eye
- Skin
- Brown Skin Discoloration
- Jaundice
- Peripheral Edema
- Vascular Spiders
- Neurologic signs
- Resting Tremor (pill-rolling)
- Wing-beating Tremor
- Intention Tremor
- Spasticity
- Rigidity
- Choreiform movements
- Drooling
- Dysphagia
- Dysarthria
- Dystonia
- Abdomen
- Psychiatric signs
- Schizophrenia
- Manic Depression
- Neuroses