CLINICAL MANIFESTATIONS Symptoms of Wilson's Disease Although abnormal copper accumulation begins at birth, the symptoms of Wilson's disease may not become apparent until late childhood or adolescence and manifests in the following ways: Neurological problems: About 60% of Wilson's disease patients present with neurological disease specifically a movement disorder. Symptoms such as tremors, muscle spasms, an unsteady walk and speech problems commonly develop around ages 15 to 30 and it may occur without liver disease. Liver problems: An estimated 40% of Wilson's disease patients present clinically with liver disease. In children, liver disease is the most common presenting feature occurring at an average age of 10-13 years. Symptoms may include abdominal pain, jaundice, acute hepatitis, cirrhosis and fulminant hepatic failure.	Behavioural or Psychiatric problems: Children with the disease are sometimes misdiagnosed as having behavioural problems because they behave erratically or perform poorly in school. Psychiatric disturbances such as depression and compulsive and antisocial behaviours are present in some patients. Eye, kidney and bone problems: Kayser-Fleischer (K-F) rings represent deposition of copper in the Descemet's membrane of the cornea, and are present in almost all symptomatic patients with neurological manifestations and fulminant hepatic failure. Wilson's disease can also interfere with the kidneys' filtering function, lead to premature osteoporosis, repeated miscarriages and infertility in women.
SCREENING AND DIAGNOSIS FOR WILSON'S DISEASE. Wilson's disease diagnosing can be challenging because: (i) no single test can diagnose Wilson's disease by itself (ii) Wilson's disease symptoms are often indistinguishable from those of hepatitis, alcoholic cirrhosis and other chronic liver diseases	(iii) many symptoms may evolve over time, rather than appearing all at once. A range of clinical observations and biochemical testing is therefore necessary to establish diagnosis as listed in Table 1.
Table 1 TEST VALUE INDICATIVE OF WILSON'S DISEASE Serum Ceruloplasmin level <20mg/dL Serum Copper level <0.75 µg/mL 24hr Urinary Copper level >100 µg of Cu/24-hour specimen Liver tissue copper level >250 µg/g of dry tissue weight Slit-Lamp Ophthalmic observation Kayser-Fleischer rings Cerebral Imaging (MRI) Abnormal Mutation Analysis Mutation on one or both chromosomes Symptoms of Wilson's Disease [ back to top ]

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