Wilson disease
Wilson's disease is an autosomal recessive genetic disorder in which copper accumulates in tissues. The main sites of copper accumulation are the liver and the brain.

The condition is due to mutations in the Wilson disease protein (ATP7B) gene.
A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, they may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson's disease occurs in 1 to 4 per 100,000 people. Wilson's disease is named after Dr. Samuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912.

Liver disease

Liver disease may present as tiredness, increased bleeding tendency or confusion (due to hepatic encephalopathy) and portal hypertension. The latter, a condition in which the pressure on the portal vein is markedly increased, leads to esophageal varices (blood vessels in the esophagus) that may bleed in a life-threatening fashion, splenomegaly (enlargement of the spleen) and ascites (accumulation of liquid in the abdominal). Chronic active hepatitis has caused cirrhosis of the liver in most patients by the time they develop symptoms.

Neuropsychiatric symptoms

About half the patients with Wilson's have neurological or psychiatric problems. Most patients initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Specific neurological symptoms then follow, often in the form of parkinsonism (increased rigidity and slowing of routine movements) 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). Seizures and migraine appear to be more common in Wilson's disease.

Psychiatric problems due to Wilson's disease may include behavioral changes, depression, anxiety and psychosis.

Other organ systems:

* Eyes: Kayser-Fleischer rings may be visible around the cornea. They are due to copper deposition in Descemet's membrane. They do not occur in all patients and may only be visible on slit lamp examination. Wilson's disease is also associated with sunflower cataracts, brown or green pigmentation of the anterior and posterior lens capsule. Neither cause significant visual loss. Kayser-Fleischer rings occur in 66% of cases, more often in those with neurological than with liver problems.

* Kidneys: renal tubular acidosis, a disorder of bicarbonate handling by the proximal tubules leads to nephrocalcinosis (calcium accumulation in the kidneys), weakening of the bone (due to calcium and phosphate loss).

* 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 (irregular or abnormally fast or slow heart beat).

* Hormones: hypoparathyroidism (failure of the parathyroid glands, leading to low calcium levels), infertility and habitual abortion.


Most patients have slightly abnormal liver function tests such as a raised transaminases and bilirubin  level. If the liver damage is significant, albumin may be decreased due to an inability of damaged liver cells to produce this protein. Alkaline phosphatase levels are relatively low in patients with Wilson's-related acute liver failure. If there are neurological symptoms, magnetic resonance imaging (MRI) of the brain is usually performed; this shows hyperintensities in the part of the brain called the basal ganglia.

There is no totally reliable test for Wilson's disease, but levels of ceruloplasmin and copper in the blood, as well of the amount of copper excreted in urine during a 24 hour period, are together used to form an impression of the amount of copper in the body. The gold standard or most ideal test is a liver biopsy.

How is Wilson disease treated?

Wilson 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.

Initial therapy includes the removal of excess copper, a reduction of copper intake, and the treatment of any liver or central nervous system damage.

Blood and urine should be monitored by a health care provider to ensure treatment is keeping copper at a safe level.

People with Wilson disease should reduce their dietary copper intake. They should not eat shellfish or liver, as these foods may contain high levels of copper. Other foods high in copper—including mushrooms, nuts, and chocolate—should be avoided during initial therapy but, in most cases, may be eaten in moderation during maintenance therapy. People with Wilson disease should have their drinking water checked for copper content and should not take multivitamins that contain copper.

If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.