(also known as Hepatolenticular Degeneration)
Clinical features: Wilson disease is a disorder of copper metabolism. The diagnosis should be considered in individuals of any age with varying combinations of liver, neurological and psychiatric disturbances. It is confirmed by the laboratory findings of low serum ceruloplasmin, high nonceruloplasmin-bound serum copper and high urinary copper. Treatment with D-penicillamine is effective.
Incidence: Estimated at 1 in 30,000 in most populations.
Inheritance : Autosomal dominant, 80% of cases represent new mutations.
Gene: Autosomal recessive.
Prenatal diagnosis: Rarely requested. Often by DNA testing if appropriate studies have been carried out on the family. If a family is considering prenatal diagnosis referral should be made to the local clinical genetics service prior to a pregnancy. This enables the family to be given appropriate advice and ensures that appropriate investigations are undertaken to confirm whether or not prenatal diagnosis is possible.
Carrier testing: Possible if mutations identified in affected family members.
British Liver Trust
44 High Street
Tel: 01425 463080
Fax: 01425 470706
If you would like to access specialist information on Wilson disease please go to:-
Genetests - Wilson disease