Wilson disease – symptoms, treatment
Wilson’s disease is a tezaurismosis described by Wilson, characterized by deposition of copper in tissues and the appearance of liver symptoms, neurological, ocular (Kaiser-Fleischer ring) and in other organs (kidney, bone, skin). The disease is genetic, with autosomal recessive transmission.
At half of the patients the first symptoms appear in adolescence, only at 1% of patients the onset is after 50 years. It describes a triad of clinical manifestations:
1. Liver: are the first manifestations, but are not specific. Hepatomegaly occurs (enlarged liver), splenomegaly (spleen exceeding 12 cm), jaundice, vascular stars, ascites and other complications of cirrhosis. Acute fulminant hepatitis with hemolytic anemia is another way of onset. It signals the progressive jaundice, ascites, hepatic and renal function failure. The phenomenon is similar to acute intoxication with copper, the prognosis is severe, death occurring within a few days. Clinical and laboratory are common with acute viral hepatitis. Chronic hepatitis appears at the age of 10-30 years, with subsequent evolution to cirrhosis.
2. Neuropsychiatric: appear at young adults and consist of coreiform movements, Parkinson’s syndrome, tremors, which emphasizes in intentional movements, abnormal gait, dysarthria. Suddenly, there may be mental changes, manifested by mismatch in the community, deterioration of intellectual capacity. More rarely: anxiety, decreased memory, or schizophrenic type symptoms.
3. Ocular. Is due to copper deposit at the periphery of the cornea (descement membrane) and appear as a gray-brown or greenish ring, pathognomonic (Kaiser-Fleischer ring). Other events – the excess of copper in skin and bones is accompanied by symptoms and signs of suffering due to these organs: skin pigmentation, especially in the calves, bone demineralization.
Treatment of Wilson’s disease
1.Diet. It consists of copper intake decreased to 1.5 mg / day, excluding copper-rich foods (shellfish, liver, nuts, cocoa, vegetables and water with high copper content).
2.Medical treatment. D-penicillamine is a chelating agent, dose: 1-2g/day. It reduces toxic free copper in the blood and increase its urinary elimination. Is associated with 250mg/day vitamin B6. The administration of zinc reduces intestinal absorption of copper (zinc 2x50mg elementary / day as salt).
3. Liver transplant. It is indicated in two situations: acute fulminant hepatitis associated with hemolysis and decompensated cirrhosis, which does not respond to chelating agents.
4. Prophylaxis. It is difficult to realize, the disease is hereditary. Is done by genetic counseling and by secondary prophylaxis at homo-and heterozygous, in asymptomatic phase by chelation therapy.