Impaired copper excretion causes copper to accumulate in the body.
Early-stage Wilson disease is characterized by the presence of copper deposits in the liver.
As the disease progresses, copper accumulates in other organs as well, most importantly in the brain and cornea.

Epidemiology

Etiology

Autosomal recessive mutations in the ATP7B gene (Wilson gene) on chromosome 13, which encodes for a membrane-bound, copper-transporting ATPase → defective ATP7B protein
- Reduced incorporation of copper into apoceruloplasmin → ↓ serum ceruloplasmin (The major carrier of copper in the blood and an important enzyme with ferroxidase activity.)
- Reduced biliary copper excretion
Results in ↑ free serum copper → accumulation in the liver, cornea, CNS (basal ganglia, brain stem, cerebellum), kidneys, and enterocytes

Tip

Don’t mess up with Hemochromatosis

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Encourage a low-copper diet (e.g., avoidance of organ meats, shellfish, nuts, chocolate, copper-containing dietary supplements).
Refer patients with refractory decompensated cirrhosis or acute liver failure for liver transplantation.

First line: chelating agents, e.g., penicillamine (preferred) or trientine
- Chelating agents facilitate renal excretion of copper by forming water-soluble compounds.
Maintenance therapy: reduced-dose zinc salts or a chelating agent