What're the symptoms of Wilson's disease?
In Wilson’s disease, copper levels in the liver are elevated at birth and do not return to normal levels. Signs of copper toxicity begin to display themselves between the ages of 5 and 20, with adolescence being the most common time period for diagnosis. Occasionally, individuals have been as old as 50 years before their symptoms have led to diagnosis.
About half of all patients experience their first symptoms in the liver. The illness causes swelling and tenderness of the liver, sometimes with fever, mimicking more common disorders, such as viral hepatitis and infectious mononucleosis. Abnormal levels of circulating liver enzymes reveal that the liver is being seriously damaged. This form of damage is referred to as "fatty degeneration." Without medical intervention, the liver damage will progress to actual cirrhosis. An often fatal manifestation of liver disease is called "fulminant hepatitis." This extremely severe inflammation of the liver (hepatitis) results in jaundice, fluid leaking into the abdomen, low protein circulating in the blood, abnormalities of the blood clotting system, swelling of the brain, and anemia due to the abnormal destruction of red blood cells.
Half of all patients experience their first symptoms due to deposits of copper in the brain and nervous system. These symptoms include tremors, uncontrollable movements of the limbs, stiffness, drooling, difficulty swallowing, difficulty talking, and headache. Many patients have a variety of psychiatric symptoms, suddenly displaying bizarre and inappropriate behavior, with deterioration of functioning at work or school.
Copper also accumulates in other body organs, particularly the brain, and may result in difficulty with speech, swallowing, trembling, writing problems, an unsteady walk, and other psychiatric problems including depression, suicidal impulses, severe insomnia and loss of the ability to concentrate. Other body organs may also be affected by copper overload. Copper may accumulate in the cornea of the eye and cause a characteristic brown pigmentation, called Kayser-Fleischer rings. Hemolytic anemia, a low blood count related to damage of red blood cells, may occur in patients with Wilson’s disease with acute liver failure. Injury to the kidneys can include changes in the filtering capacity and function due to copper induced damage. Finally, severe bone disease from osteoporosis may occur prematurely in some patients with Wilson's disease.
A very small percentage of women have symptoms involving their reproductive systems. Some females never begin to have menstrual periods, while others stop having them. Still other women experience multiple miscarriages of pregnancies. |
