Wilson disease
Wilson disease (also known as hepatolenticular degeneration or ATP7B-related copper toxicosis) is a treatable, lifelong genetic disorder of copper handling. With early diagnosis and consistent treatment, most people with Wilson disease live a long and full life.
Overview
Wilson disease (also called hepatolenticular degeneration) is caused by biallelic pathogenic variants in the ATP7B gene. Without ATP7B function, the liver cannot move copper into bile for excretion. Copper accumulates first in the liver, then in the brain (especially the basal ganglia), the cornea, and elsewhere. Worldwide prevalence is roughly one in 30,000.
Diagnosis
Diagnosis combines low serum ceruloplasmin, elevated 24-hour urinary copper, slit-lamp examination for Kayser–Fleischer rings, and confirmatory ATP7B sequencing. Liver biopsy with quantitative hepatic copper supports diagnosis when other tests are equivocal.
Treatment
Treatment is lifelong. Initial therapy is usually a copper chelator (penicillamine or trientine), often paired with a low-copper diet. Once copper stores normalize, many patients transition to maintenance with zinc, which blocks intestinal copper absorption. Newer options include bis-choline tetrathiomolybdate.
Diet and copper
A copper-aware diet is part of management, not a substitute for medication. Foods to be cautious about include liver, oysters and shellfish, dark chocolate, mushrooms, lentils, and organ meats. Use the food copper lookup tool to check specific items.
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