Name
WILSONS DISEASE
DESCRIPTION
DETAIL
D.D.OTHER TESTS : * SERUM CERULOPLASMIN LEVEL < 20 MG / ML * CONCENTRATION OF COPPER IN LIVER BIOPSY SAMPLE > 250 MICRO GM / GM OF DRY WT. * URINARY EXCRETION OF COPPER > 100 MICRO GM PER DAY * LIVER FUNCTION TEST - ABNORMAL * SIGNS OF HAEMOLYTIC ANEMIA ARE PRESENT IN FORM OF INCREASED RETICULOCYTE COUNT.
TYPENOTES
RARE, AUTOSOMAL RECESSIVE DISORDERMedical Care: The mainstay of therapy for Wilson disease is pharmacologic treatment with chelating agents. Surgical Care: " The use of surgical decompression or transjugular intrahepatic shunting (TIPS) in the treatment of portal hypertension is reserved for individuals with recurrent or uncontrolled variceal bleeding that is unresponsive to standard conservative measures. " Orthotopic liver transplantation is a potentially curative treatment of Wilson disease. o Transplantation is primarily reserved for treatment of patients with fulminant liver failure or end-stage liver cirrhosis, which progresses despite chelation therapy. o The selection of patients for transplantation may be facilitated by determination of a prognostic index, which is based on the degree of abnormality of serum aspartate aminotransferase, bilirubin, and prothrombin time and appears to accurately predict a fatal or nonfatal outcome. o In the absence of severe hepatic disease, liver transplantation is generally not recommended for treatment of refractory extrahepatic manifestations. Diet: Patients should generally avoid eating foods with a high copper content such as liver, chocolate, nuts, mushrooms, legumes, and shellfish (especially lobster). Drinking water from atypical sources (eg, well water) should be analyzed for copper content and replaced with purified water if the copper content is greater than 0.2 parts per million.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
COMPLETE BLOOD COUNT, LIVER FUNCTION TEST, BIOPSY