Disease Information for Wilsons Disease: Definition

  • A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs; Clinical features include LIVER CIRRHOSIS; LIVER FAILURE; SPLENOMEGALY; TREMOR; bradykinesia; DYSARTHRIA; CHOREA; MUSCLE RIGIDITY; Kayser-Fleischer rings (pigmented corneal lesions); ATAXIA; and intellectual deterioration;

    Hepatic dysfunction may precede neurologic dysfunction by several years; (From Adams et al, Principles of Neurology, 6th ed); It is an autosomal recessive disorder of copper metabolism, characterized by accumulation of copper which is toxic for cells; Its prevalence is 1/30,000; The gene responsible, ATP7B, was mapped to chromosome 13; It encodes a protein belonging to the P-type ATPases family; This protein is a copper transporter necessary for excretion of copper into the bile as well as its incorporation into ceruloplasmin (plasma transporter protein); The disease is mainly characterized by hepatic and neuropsychiatric symptoms: Hepatic involvement is observed in 40 to 70% of patients, whatever their age (and in most affected children);

    It consists in chronic active hepatitis evolving toward cirrhosis and fulminant hepatitis; Fulminant hepatitis is more frequent in young women and is characterized by frequent association with hemolytic anemia with Coombs" negative test, elevated serum and urine copper concentrations, low ceruloplasmin, relatively mild elevation in transaminases and disproportionately low levels of alkaline phosphatase despite massive hepatic necrosis and hyperbilirubinemia; Neuropsychiatric manifestations increase with age (75% of patients aged more than 20);

    The most frequent symptoms include: tremor, dysarthria, dystonia, coordination disorders, insomnia, concentration and behavorial disturbances; Diagnosis should be suspected in any patient less than 40 with any extrapyramidal syndrome; Abnormal signals can be shown most commonly in basal ganglia, cortical white matter, midbrain and brain stem by magnetic resonance imaging; Kayser Fleicher ring (copper deposits in the Descemet"s membrane) which is pathognomonic, may lack initially or be absent in isolated hepatic involvement; Renal tubulopathies and endocrinopaties are more rarely observed; Association of low ceruloplasmin level ( 20mg/dl), liver biopsy with quantification of copper should be performed

    [Orphanet 2003)]

    Wilson's disease; Kinnier Wilson's disease; Westphal's pseudosclerosis; Westphal-Strumpell disease; Westphal-Strumpell pseudosclerosis; Westphal-Strumpell syndrome; Wilson-Konovalov disease; Cerebral pseudosclerosis; degeneratio hepatolenticularis; hepatocerebral degeneration; hepatocerebral dystrophy; hepatolenticular degeneration; Morbus Wilson; neurohepatic degeneration; progressive lenticular degeneration;