Wilson’s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.
Signs & Symptoms
The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis. People with liver problems tend to come to medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson’s disease; many of these, when tested, turn out to have been experiencing symptoms of the condition but haven’t received a diagnosis.
About half the people with Wilson’s disease have neurological or psychiatric symptoms. Most initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Cogwheel rigidity, bradykinesia or slowed movements and a lack of balance are the most common features with or without a typical hand tremor, masked facial expressions, slurred speech, ataxia (lack of coordination) or dystonia (twisting and repetitive movements of part of the body).
They may present with abnormal liver function tests like jaundice.Some may present with features of advanced liver disease like bleeding disorder, altered sensorium and fluid accumulation in the body.Few patients may present with acute liver failure which requires urgent liver transplantation.
Other Organ Systems
Eyes: Kayser–Fleischer rings (KF rings), a pathognomonic sign, may be visible in the cornea of the eyes, either directly or on slit lamp examination as deposits of copper in a ring around the cornea.
Kidneys: renal tubular acidosis, a disorder of bicarbonate handling by the proximal tubules leads to nephrocalcinosis (calcium accumulation in the kidneys), a weakening of bones (due to calcium and phosphate loss), and occasionally aminoaciduria (loss of essential amino acids needed for protein synthesis).
Heart: cardiomyopathy (weakness of the heart muscle) is a rare but recognized problem in Wilson’s disease; it may lead to heart failure (fluid accumulation due to decreased pump function) and cardiac arrhythmias (episodes of irregular and/or abnormally fast or slow heart beat).
Usually made by testing for serum ceruloplasmin level,24 hr urinary copper level and by doing liver biopsy. Mutation analysis of the ATP7B gene, as well as other genes linked to copper accumulation in the liver, may be performed if needed.
In general, a diet low in copper-containing foods is recommended with the avoidance of mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Generally, penicillamine and trientine that binds copper (chelation) and leads to excretion of copper in the urine is used. Oral Zinc is also used in some patients in supplementation with penicillamine therapy.