Clinical Presentation

Wilson disease is a protean disorder with a broad clinical spectrum owing to the toxic effect of copper on the various organ systems. The disorder occurs worldwide with an estimated prevalence in Caucasians of approximately 1 per 30,000 to 1 per 100,000 live births and a carrier frequency of about 1 per 90 to 1 per 150.

Most patients with Wilson disease present between 5 and 35 years of age. However, Wilson disease should be included in the differential diagnosis in individuals with liver disease of uncertain cause even if they are younger or older. Clinical presentation of liver disease varies from acute fulminant liver failure requiring transplantation to chronic liver disease with cirrhosis and its complications, such as portal hypertension, esophageal varices, and hypersplenism, but also solely steatosis may occur.

Neurological manifestations of Wilson disease typically develop later in life, most often in the third decade, but may also occur in children. The spectrum of symptoms range widely from discrete tremor, dysarthria, and lack of motor coordination to severe pseudobulbar palsy. Because of affection of the basal ganglia clinical signs of Parkinson disease such as micrographia, hypersalivation, hypomimia, and rigid dystonia may occur. Psychiatric manifestations include behavioral changes and deteriora tion of performance at school or at work. Major depression, anxiety, or frank psychosis are further presentations. Many of those patients with neurological or psychiatric symptoms have liver disease, but not all of them display hepatic symptoms.

Kayser-Fleischer rings are characteristic although not mandatory findings in Wilson disease, representing deposits of copper in the Descemet's membrane of the peripheral cornea. They appear as a band of golden-brownish pigment when visible by direct inspection. However, in most cases, slit-lamp examination by a skilled examiner is required. Other ophthalmological changes such as sunflower cataracts representing copper deposition in the lens might be revealed. These clinical observations are of diagnostic value, but do not obstruct vision. Nonetheless, Kayser-Fleischer rings are not entirely specific for Wilson disease and are also observed in patients with chronic cholestatic diseases.[9] KayserFleischer rings typically develop later in the course of the disease, are rare in childhood, and are mostly although not necessarily detectable in patients with neurological manifestations, but in only about 55% of patients presenting initially with liver disease.[10]

In some patients, Coombs-negative hemolytic anemia is the first clinical disease manifestation. Other rare extrahepatic manifestations of Wilson disease may include renal tubular abnormalities, arthralgias, cardiomyopathies and arrhythmia, amenorrhea, or repeated miscarriages (reviewed in Ref. [11]).

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