About Wilson's Disease

Wilson's disease is an inherited disorder which only strikes if both parents carry the abnormal gene for it. It causes copper to be improperly absorbed to accumulate in tissues, rather than released into the bile as it should be. This disease is always fatal if left undiagnosed and untreated. Current estimates show as many as half of Wilson's Disease victims die undiagnosed.

Carriers of Wilson's disease have only one abnormal gene, therefore their metabolic disorder will be mild, show no symptoms, and should not be treated.

If there is a history of Wilson's disease in a family, it is vitally important that genetic screening be done on other family members. Thus preventive measures can be taken, as well as early treatment where appropriate. If a parent has Wilson's disease, chances are one in two hundred a child will have it; if a sibling has it, the chances are one in four.

Symptoms

Family history is vital, since the symptoms of Wilson's disease vary so widely, making diagnosis difficult. Symptoms in Wilson's Disease range from liver symptoms such as jaundice to neurological symptoms such as movement disorders, seizures, and migraines. Personality changes may arise. Possible symptoms are so far-ranging as to include bone pain, thyroid dysfunction, gynecological problems, skeletal and abdominal pain, shortness of breath and fatigue. Anemia, gallstones, and heart and pancreas problems may occur. Kidneys can be affected. Symptoms usually begin early in life, in childhood or the early twenties.

Diagnosis

There is no one definitive test for Wilson's disease. It is diagnosed through a combination of reported symptoms, family history, and laboratory tests. If someone has a rusty-colored ring in their cornea (known as "Kayser-Fleischer rings), chronic hepatitis, neuropsychiatric symptoms, or otherwise unexplained transaminase elevation, they should be tested for Wilson's disease.

If Wilson's disease is suspected, tests used are 24-hour urinalysis for copper, serum copper test, liver biopsy, slit lamp examination of the eyes for Kayser-Fleischer rings, and a DNA test for analysis of possible genetic mutations.

Treatment

Drug and dietary therapies are used for Wilson's disease patients. In acute cases involving liver failure, liver transplant may be necessary.

Drug treatments for Wilson's disease include trientine and penicillamine for copper binding, in the early stages. They cause increase in volume of urine to bind the copper content and wash it out. Zinc acetate therapy, which seems to lack harmful side effects, may be used in the long term to block copper absorption in the intestines.

Wilson's disease patients may require a change in diet to avoid foods high in copper content such as liver and shellfish. Sometimes the local water supply can be high in copper, so a water purification system must be used.

The prognosis in patients with Wilson's disease varies greatly depending on how far the disease has progressed and its severity. If caught early, with proper diagnosis and treatment, Wilson's need not be fatal.

Sources:

Mayo Clinic

National Institute of Health

Signet/Mosby Medical Encyclopedia