Wilson Disease

Wilsons disease is an inherited genetic disorder affecting copper levels in the body.

Signs and Symptoms

Typically, signs and symptoms of Wilsons disease first appear between the ages of 6-40, but they usually appear during the teenage years.

Liver disease is usually the initial feature of Wilsons disease in people between the ages of 6-45. Signs and symptoms of liver disease include:

jaundice
fatigue
loss of appetite
abdominal swelling

Psychiatric or nervous system problems commonly occur in young adults with Wilsons disease. Signs and symptoms of these problems can include:

clumsiness
trembling
difficulty walking
speech problems
deteriorating school work
depression
anxiety
mood swings

In many folks with Wilsons disease, copper deposits form a greenish-brown ring around the cornea, called the Kayser-Fleischer ring. Abnormalities in eye movements, such as difficulty gazing upwards, may also occur.

Causes

Mutations in the ATP7B gene cause Wilsons disease. The ATP7B gene encodes for a protein that aids in the transport of copper from the liver to other parts of the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly, resulting in excess copper accumulating in tissues, especially the brain, eyes and liver.

Normal variations in the PRNP gene modify the course of Wilsons disease. A normal variation in the PRNP gene may delay the age of onset of Wilson disease and affect the type of symptoms that develop. The PRNP gene encodes for making a prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper.

Treatment

Wilson disease requires lifelong treatment, generally using drugs to remove excess copper from the body. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is considered the treatment of choice. In addition, penicillamine and trientine increase excretion of copper; however, both drugs can cause serious side effects.

A low-copper diet is also recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be necessary.

Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.

Risk Factors

If both parents carry one copy of the abnormal Wilsons disease gene, they have a 25% chance of having a child with two defective genes who will develop Wilsons disease. Since each child is conceived independently of its siblings, the 25% figure remains the same in each pregnancy.

For this reason, experts recommend that all children and siblings of patients with Wilsons disease be tested for the disease.

Prognosis

Early onset of the disease is worse than late onset in terms of prognosis. If the disorder is detected early, an individual with Wilsons disease can usually enjoy normal health and lifespan.

If left untreated, Wilsons disease can cause severe brain damage, liver failure, and death.