Abstract 5088

Wilson's disease presenting as fulminant hepatic failure is a rare and poorly recognized disorder, Coombs-negative hemolytic anemia with features of acute intravascular hemolysis can be a major complication, we report a rare case of Wilson's disease causing fulminant hepatic failure associated with hemolytic anemia. A 19 year old female with no significant past medical history who presented to the hospital with a chief complaint of abdominal pain and dark urine. Symptomes started about one week ago, with a mild abdominal pain, over the next two days the patient started noticing a change in the color of her urine. On presentation the patient was having generalized weakness and difficulty breathing, but she denied any fever or chills. The patient denied any medication use or abuse. She is a full time student, and she denied any chemical substance exposure. On physical examination the patient was pale, dehydrated and jaundiced. She had a right upper quadrant tenderness. The physical examination was otherwise within normal limits. Lab work showed anemia with reticulocytosis, her hemoglobin was 7, with an MCV of 103, white count was 10, and Platelets of 175. Liver function tests were abnormal with aminotransferase levels of 1480, and Alkaline phosphatase of 42, Bilirubin was elevated as well with a total of 13.3, and a direct of 8.1. Urine analysis showed heoglobinuria, LDH was elevated 1864, and Haptoglobin was < 8, DAT broad spectrum was negative. The serum Copper level was four times the normal limit, and the urine Copper level was elevated as well. Peripheral blood smear was was consistent with intravascular hemolysis. Slit Lamp Examination of the eyes showed Icterus with atypical pigment deposition, consistent with Kayser-Fleischer rings in both eyes. The Patient was diagnosed with Wilson disease, with fulminant hepatic failure, irreversible cirrhosis, complicated with hemolytic anemia. Liver transplant was recommended. The patient was put on the list and received a new liver in less than a week. After the liver transplant the patient maintained a stable level of hemoglobin, her liver function tests normalized, and she did not require any blood transfusion any more.

Discussion

Wilson's disease presenting as fulminant hepatic failure is a rare and poorly recognized disorder. According to a guideline from the American Association for the study of liver diseases, Coombs-negative hemolytic anemia with features of acute intravascular hemolysis should be considered when the diagnosis of fulminant hepatic failure due to Wilson's disease is suspected. Patients with fulminant hepatic failure from Wilson's disease are often children or young adults who have not previously been diagnosed with Wilson's disease ; they usually have an associated sever hemolytic anemia as the hepatocellular necrosis results in the release of copper ions into the circulation. This presentation may be associated with hemoglobinuria, dark urine, and renal failure, has an ominous prognosis, and is considered an indication for urgent liver transplantation, which is the only intervention that would help to stop the hemolysis.

Disclosures

No relevant conflicts of interest to declare.

Topics:
hemolytic anemia, hepatitis fulminant, hepatolenticular degeneration, liver failure, acute, liver transplantation, abdominal pain, coombs' test, hemoglobin, jaundice, liver function tests

Author notes

*

Asterisk with author names denotes non-ASH members.

© 2009 by The American Society of Hematology
2009
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