What is Wilsons disease?
Wilsons disease is a genetic disorder characterised by an accumulation of copper primarily within the liver and subsequently in the brain and other tissues, which manifests with psychonneurological symptoms and liver disease.
What causes Wilsons disease?
Wilsons disease is an autosomal recessive hereditary disorder. The defective gene (ATP7B) has been mapped to chromosome 13. This gene encodes for a copper-transporting P-type ATPase. When the gene is defective, there is insufficient biliary excretion of copper leading to its accumulation to toxic levels into the body. Wilsons disease is an uncommon disorder with scarce prevalence data; estimations range between 1:35 000 1: 100 000.
Clinical Presentation of Wilsons disease
Wilsons disease usually begins with a presymptomatic period in which copper accumulation in the liver causes subclinical hepatitis. Wilsons disease normally becomes clinically apparent in the teenage years or in the twenties, though symptomatic patients have presented as young as 3 years of age or as old as 60 years.
There are 2 types of clinical presentations of Wilsons disease:
Wilsons disease presenting with hepatic symptoms
Liver disease is always present when a Wilsons disease patient presents with any symptom.
The liver manifestations of Wilsons disease tend to occur earlier and may be of almost any variety and severity.
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Incidental finding of hepatomegaly
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Jaundice
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Acute or chronic hepatitis
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Portal hypertension: bleeding varices
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Cirrhosis
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Fulminant hepatic failure
Wilsons disease presenting with neurological symptoms
Neurological manifestations present as movement disorders which can be quite difficult to differentiate from other neurological disorders.
They include three syndromes that often occur in the same patient or develop as the disease progresses:
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A dystonic syndrome characterized by dystonic postures, dysarthria and choreoathetosis
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An ataxic syndrome with postural tremor and ataxia of the limbs
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A parkinsonian syndrome with hypokinesia, rigidity and resting tremor.
How to diagnose Wilsons Disease?
The combination of genetic, clinical and biochemical tests is often necessary for the diagnosis of Wilsons disease:
Treatment of Wilsons disease?
With proper drug therapy, Wilsons disease progression can be halted, and often symptoms can be improved. The treatment goal is to first remove the excess accumulated copper in the body and then to prevent its re-accumulation. Therapy must be life-long.
Several products, with different mechanism of action are available. D penicillamine, Zinc and trientine are indicated in the treatment of WD. The choice of treatment depends on the patients clinical presentation, the efficacy/safety profile of the product and the physicians experience and preference. |
