Wilson's Disease

Genetic Disorder Causes Copper Accumulation

Wilson's disease is an inherited genetic disorder of copper metabolism. Healthy people excrete extra copper that the body doesn't need, but people with Wilson's disease can't. If left untreated, Wilson's disease causes copper poisoning and damage to the liver, brain, and eyes. Wilson's disease affects about 1 in 30,000 people worldwide.

Wilson's disease is inherited in an autosomal recessive manner, meaning that a child would need to inherit two copies of the defective gene that causes Wilson's disease, one from each parent, in order to develop the disorder.

Symptoms

Although excess copper begins accumulating in the body at birth in Wilson's disease, the symptoms often do not begin until adolescence. Symptoms of Wilson's disease depend on the part of the body affected, and may include:

• Liver disease - jaundice, abdominal swelling, abdominal pain, vomiting of blood. In about half of the people with Wilson's disease, the liver is the only affected body organ.
• Eyes - Kayser-Fleisher rings, which are rusty brown rings around the cornea of the eye
• Brain - tremors of the head, arms, or legs, impaired muscle tone, muscle contractions (dystonia), slowness of movements (bradykinesia), difficulty controlling voluntary muscles (ataxia), slurred speech, difficulty swallowing
• Mental illness - about one-third of people with Wilson's disease experience mental changes such as bizarre or inappropriate behavior, depression, neurosis, or psychosis
• Women's health - Women with Wilson's disease may have irregular menstrual periods, infertility, or multiple miscarriages.

Diagnosis

Diagnosis of Wilson's disease requires several tests:

• Serum copper test - will be low
• Serum ceruloplasmin test - will be low
• 24-hour urine copper test - will be high
• Ophthalmalogic slit lamp examination for Kayser-Fleisher rings in the cornea of the eyes
• Liver sample (biopsy) is tested for copper concentration - will be high

It is important to diagnosed Wilson's disease as early as possible in an individual since damage to the organs of the body can occur before any symptoms show.

Treatment

Treatment of Wilson's disease focuses on removing excess copper from the body and preventing it from reaccumulating. Treatment is lifelong. Drugs that bind to the excess copper and help remove it from the body include Cuprimine (penicillamine) and Syprine (trientine). High-dose oral zinc such as Galzin (zinc acetate) interferes with the body's absorption of copper. Antioxidants such as Vitamin E may be taken along with any of these drugs to help protect the body's tissues from damage.

Individuals with Wilson's disease also should eat a low-copper diet, which means avoiding foods high in copper such as mushrooms, chocolate, nuts, dried fruit, shellfish, and liver.

People who don't respond well to medical treatment may need a liver transplant, since the excess copper in the body damages the liver.

Treatment of dystonia, muscle stiffness, and tremors may include drugs such as Lioresal (baclofen), Larodopa (levodopa), Klonopin (clonazepam), or Zanaflex (tizanidine).

Since Wilson's disease is inherited, it would be important to test any brothers or sisters of a person with Wilson's disease to see if they had inherited it too.

_Sources:

11 Dec 2007. "NINDS Wilson's Disease Information Page." 14 Feb 2007. National Institute for Neurological Disorders and Stroke.

Cox, 11 Dec 2007. "Wilson Disease." GeneReviews. 24 Jan 2006. GeneClinics.

11 Dec 2007. "About Wilson's Disease." Wilson's Disease Association International.