Clinical symptoms of Wilson's disease: Regarding the people with Wilson disease, copper begins to accumulate in the liver soon after birth, but signs and symptoms rarely occur before the age of 5-6 years. Disease almost always becomes apparent before the age of 30 years, but symptoms can sometimes occur in old age. Accumulated copper may affect many organs and tissues, but most frequently are damaged liver and central nervous welfare payments. Symptoms of Wilson's disease include:

Liver problems: Because copper initially accumulates in the liver, most people shows signs of liver damage, including abdominal pain and yellow coloring of skin and cornea (jaundice).

Later, anemia and vomiting can occur with blood. Sometimes the disease progresses without obvious clinical symptoms of Wilson's disease until patients develop cirrhosis - irreversible liver damage that affects its function. At this stage, the signs and symptoms may include swelling of the abdomen (ascites) or legs (edema) and enlarged spleen (splenomegaly).

-Neurological problems: Approximately one third of patients with Wilson disease show neurological signs and symptoms such as tremors, muscle spasms, uncertain gait, and speech difficult and excessive salivation.

-Behavioral or psychological disorders: Wilson's disease can cause personality changes and inappropriate behavior. Children with this disorder are sometimes wrongly diagnosed with behavioral disorders because they misbehave or bad results at school.

-Eye disorders, kidney and bone: Many patients with Wilson's disease, even those who do not have other signs and symptoms, develop a yellowish-brown coloration characteristic around the cornea (Kayser-Fleischer ring). Caused by copper deposits, Kayser-Fleischer rings are frequently discovered during a routine ophthalmological. Wilson's disease can also affect kidney function and lead to brittle bones (osteoporosis). The disease can also lead to kidney stones.



-Diagnosis: Wilson's disease diagnosis can be made relatively easily by various tests. But as Wilson's disease is very rare and its main symptoms are very similar to those of hepatitis, alcoholic cirrhosis and other chronic liver diseases, diagnosis is often set later. Diagnosis is based on a combination of current symptoms and tests. Used tests can be performed in patients who have symptoms or not. It is important that the disease be found as quickly as to have liver damage may occur without any symptoms.



An easy way to diagnose Wilson's disease is to measure the level of glycoproteins found in blood, called ceruloplastina. Ceruloplastine can identify low levels of disease in approximately 80% of patients. This method is not effective in women who take birth control pills, are pregnant or children under 6 months.

Another test involves examining the eye to reveal a characteristic ring of copper stored in a membrane of the cornea (called the Kayser-Fleischer ring). This method is easily performed and is very effective in finding disease in patients who have symptoms. It is not as effective in people without symptoms (asymptomatic). This test is not sufficient to confirm this disease because some patients with liver disease may present the same results.