Wilson's disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance (although incidences up to 1:200 have been reported in Central America, especially in El Salvador). Its main feature is accumulation of copper in tissues, which manifests itself with neurological symptoms and liver disease. The estimated heterozygous carrier rate is about 1 in 9,000, meaning that 1 in 9,000 people are unaffected carriers of this mutation.

Signs and symptoms

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Symptoms usually appear around the ages of 18 to 21 years, but sometimes not until the age of 30, and in rare instances up to age 50. Presentation before 5 years of age is extremely rare, despite the biochemical defect being present at birth.

The age of presentation seems to correlate with the organ system involved. About half (40–50%) of patients first present with hepatic symptoms and half (40–50%) with neurologic symptoms. The average age for hepatic symptoms is 10–14 years, compared with 19–22 years for neurologic symptoms. Patients rarely present after age 40.

More on [ Wilson's disease ]

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