Wilson's Disease

It is an inherited disorder in which a defective gene responsible for processing and excreting the mineral 'copper' obtained from food causes copper to accumulate at toxic levels in the body (especially the liver and brain), eventually leading to organ failure.

Excess copper first accumulates in the liver, killing cells over the years and causing cirrhosis. Once the liver is saturated, the overflowing copper enters the bloodstream and travels to the brain's movement center (basal ganglia), causing psychiatric and neurological problems by damaging brain tissue.

The disease usually presents with two different clinical manifestations during adolescence or young adulthood:
Hepatic Symptoms: Jaundice, fluid accumulation in the abdomen (ascites), vomiting, chronic fatigue.
Neurological Symptoms: Severe trembling in the hands (tremor), speech impairment, difficulty swallowing, sudden drop in school performance, and psychological instability/depression.

It is the most typical, visible sign of the disease. It occurs when excess copper carried by the blood deposits around the cornea, between the colored part of the eye (iris) and the white part, forming a rusty, golden/brown, or greenish ring. An ophthalmologist detects this ring in almost all patients with neurological symptoms.

Very low blood levels of the copper-carrying protein 'Ceruloplasmin' and excessively high amounts of copper excreted in a 24-hour urine collection support the diagnosis. The eyes are examined for KF rings. For a definitive diagnosis, a Liver Biopsy and ATP7B gene mutation analysis (DNA test) are performed.

Treatment is highly successful when diagnosed early. 'Chelating agents' (D-penicillamine, etc.), which capture accumulated copper in the body and excrete it through urine, and Zinc pills, which block new copper absorption from the intestine, are administered for life. If the liver has completely failed (Cirrhosis stage), the only definitive solution is a Liver Transplant.