Wilsons Disease

Wilson’s disease (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body. The buildup of copper leads to damage in the kidneys, brain, and eyes.

Although copper accumulation begins at birth, symptoms usually appear between the ages of 6 and 20 years, but can begin later in life. Wilson’s disease affects approximately one out of every 30,000 people in the world.

Wilson’s Disease is an inherited condition. If one person in a family has Wilson’s Disease, a DNA test often can tell if other family members are affected, if they are carriers or if they are not affected. WD does not appear unless a person receives the same defective gene from both parents. If both parents carry an abnormal gene for Wilson’s disease there is a:

  • 25 percent chance their child will develop the disorder
  • 50 percent chance their child will receive one defective gene from one of the parents, which means the child will not show symptoms of the disorder but is a “carrier”
  • 25 percent chance their child will receive both normal genes, one from each parent, and will be unaffected

In a healthy person, the liver gets rid of copper by releasing it into bile. (Bile is a liquid produced by the liver that helps the body digest food and do other things.) The bile containing the copper passes through the digestive system and then leaves the body with other waste products when a person has a bowel movement. The liver of a person who has Wilson’s Disease does not release copper into bile as it should. Instead, the copper builds up and damages the liver.

The most characteristic symptom of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp.

The primary consequence for most of those with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver. In others, the first symptoms occur later in adulthood and most commonly include:

  • Slurred speech (dysarthria)
  • Difficulty swallowing (dysphagia)
  • Drooling
  • Tremor of the head, arms, or legs
  • Impaired muscle tone
  • Sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia)
  • Slowness of movements (bradykinesia)
  • Clumsiness (ataxia)
  • Loss of fine motor skills

A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis.

Early onset of the disease is worse than late onset in terms of prognosis. If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan. If not treated, WD can cause severe brain damage, liver failure, and death.

WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating. Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious side effects.

A low-copper diet may also be recommended, which involves avoiding:

  • Mushrooms
  • Nuts
  • Chocolate
  • Dried fruit
  • Liver
  • Shellfish

In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.