A Case of Wilson's Disease Presenting and Flare-up as Acute Hemolytic Anemia and Fulminant Hepatitis Features / 대한혈액학회지

ABSTRACT

Wilson's Disease is a rare familial disorder of abnomalities in hepatic copper metabolism usually presenting with neuropsychiatric or hepatic manifestation. Hemolytic anemia is known as one of its initial clinical manifestation, but that with fulminant hepatitis is a rare presentation of Wilson's disease and so fatal leading always to death, to our best knowledge. This 16-year-old woman was transferred to our hospital with problems of acute Coombs' negative hemolytic anemia and unknown fulminant hepatitis features. She was early diagnosed as complications of Wilson's disease by slit-lamp examination of characteristic Kayser-Fleischer ring and later confirmed by raised serum free copper (55.9microgram/dL, control;< 15 microgram/dL) and 24h urine copper (1,546 microgram/dL, control; 38~70 microgram/dL). She was soon treated with D-penicillamine and pyridoxine with the plan of early liver transplantation. She was fortunately recovered with conservative treatment alone but did have active cirrhosis on consequent liver biopsy. She has been followed up for 7months. Wilson's disease should always be thought in childhood or adolescent patient with Coombs' negative hemolytic anemia and unknown fulminant hepatitis.