A Case of Wilsons Disease with Fulminant Liver Failure

Abstract

Purpose: A 22-year-old white female was admitted with one month history of intermittent bloody diarrhea, increased in severity for four days prior to admission. Associated symptoms included sore throat, fatigue, abdominal bloating, fever, chills, nausea and vomiting bilious material. She also complained of recent onset dark, “smoky” urine and yellow discoloration. No history of pruritis, recent travel, blood transfusion, or easy bruising. On examination the patient had jaundice and was in slight discomfort, with a fever of 102.5 F. She was lethargic, but arousable and oriented to person, place and time. Abdomen was soft and non-tender; no guarding, or hepatomegaly appreciated. No signs of chronic liver disease. Rectal examination revealed dark brown stool. Laboratory examination indicated an elevated white count with bandemia, hemoglobin of 7.2 (MCV 112; RDW 14). BUN and creatinine were 45 and 2.8. Liver transaminases: ALT 17, AST 193 Alk Phos < 3, Albumin 2.3 and Total bilirubin 19.3 (Direct 12.6). Coagulation profile showed INR 4.2 and PTT 55. Further evaluation demonstrated Coombs test negative hemolysis; spherocytes, nucleated RBC; left shift of WBC to promyelocyte stage; Plts 100,000 with large forms on peripheral smear. The patient was started on antibiotics for an initial diagnosis of infectious diarrhea. CT scan of the abdomen showed moderate ascites, splenomegaly, distended gallbladder and thickening of colonic wall. No liver lesions were noted. Based upon clinical suspicion a thorough ophthalmological evaluation was performed and revealed dark brown/yellow rings in the peripheral cornea of the deep stroma consistent with Kayser-Fleischer rings. The patient was referred for a liver transplant, which she received shortly thereafter. Wilsons disease is a rare autosomal recessive disorder of copper metabolism in which excess copper accumulates in the liver, central nervous system and other tissues. The incidence is approximately 1 in 30,000 with most patients presenting betweeen the ages of 5 and 40. Fulminant hepatic failure usually occurs in children or young adults not previously diagnosed with Wilsons disease. Our case demonstrates a challenging diagnosis based upon clinical suspicion and laboratory data consistent with fulminant hepatic failure in this disease: Coombs-negative hemolytic anemia, coagulopathy unresponsive to Vitamin K, rapidly progressive renal failure and a normal or markedly subnormal Alkaline Phosphatase ( < 40 IU/L).