Wilson disease is a disorder of copper metabolism that results in accumulation of copper in the liver and other organs. It affects men and women; about 1 person in 30,000 has the disorder. Affected people are homozygous for the mutant recessive gene, located on chromosome 13. Heterozygous carriers, who constitute about 1.1% of the population, are asymptomatic.
Symptoms and Signs
Symptoms of Wilson disease usually develop between ages 5 and 35 but can develop from age 2 to 72 yr. In almost half of patients, particularly adolescents, the first symptom is Hepatitis, acute, chronic, orfulminant In about 40% of patients, particularly young adults, the first symptoms reflect CNS involvement
- Slit-lamp examination for Kayser-Fleischer rings
- Serum ceruloplasmin, sometimes serum copper, and 24-h urinary copper excretion
- Sometimes confirmation by penicillamine provocation test or liver biopsy
Prognosis for patients with Wilson disease is usually good, unless disease is advanced before treatment begins. Untreated Wilson disease is fatal, usually by age 30.
- Penicillamine or trientine
- Low-copper diet
- Liver Transplantation