Wilson Disease
Wilson disease is a rare inherited disorder that causes toxic copper buildup, but early detection and lifelong copper‑lowering treatment can preserve health.
Overview
Wilson disease is a rare inherited disorder that prevents the body from eliminating excess copper. While a small amount of copper from food is essential for health, excess copper is poisonous. In a healthy individual, the liver releases surplus copper into bile, a digestive fluid. In Wilson disease, copper accumulates in the liver and is released directly into the bloodstream, potentially damaging the brain, kidneys, and eyes.
Symptoms
Although the genetic defect is present at birth, clinical manifestations typically appear between the ages of 5 and 35. The disease may first affect the liver, the central nervous system, or both. The most characteristic sign is a rusty‑brown ring around the cornea of the eye, known as a Kayser‑Fleischer ring. Other possible symptoms stem from organ damage caused by copper overload.
Causes & Risk Factors
Wilson disease is inherited; the genetic mutation is present from birth, making the individual unable to excrete copper efficiently. No additional lifestyle risk factors are required for the disease to develop.
Diagnosis
Diagnosis relies on a combination of physical examination—particularly looking for the Kayser‑Fleischer ring—and laboratory tests that assess copper levels and liver function.
Treatment & Management
Management centers on removing excess copper and preventing further accumulation:
- Pharmacologic agents that chelate copper and promote its excretion.
- A lifelong low‑copper diet, avoiding foods high in copper such as shellfish and liver.
- During the initial phase of treatment, also avoid chocolate, mushrooms, and nuts.
- Check drinking water for copper content.
- Avoid multivitamins that contain copper.
With early detection and proper, continuous treatment, individuals with Wilson disease can maintain good health.