Autoimmune Hepatitis Masquerading as Wilsonʼs Disease

Abstract

Introduction: Wilson disease (WD) results from a copper (Cu) transport mutation. Initial presentation of WD can be as acute liver failure (ALF) necessitating an urgent liver transplant. Autoimmune hepatitis (AIH) is an inflammatory disease with elevated antibodies and interface hepatitis on liver biopsy. ALF from AIH can be treated with immunosuppression, thereby, preventing the need for liver transplant. Differentiation between acute WD and AIH represents a diagnostic challenge. Case presentation: A 19 year old asymptomatic male had routine labs showing ALT: 512 U/L and AST: 529 U/L. He denied personal or family history of liver disease, recent medication use, alcohol or recreational drug use, or sexual activity. Repeat labs revealed ALT: 1002 U/L, AST: 336 U/L, ALP: 178 U/L, TB: 0.77 mg/dL, DB: 0.43 mg/dL, INR: 1.1, albumin: 3.6 g/dL, IGA: 177 mg/dL and IGG: 1164 mg/dL. Acute hepatitis panel, CMV and EBV serologies, ANA, ASMA, AMA and gamma globulins on serum protein electrophoresis were negative. Iron studies showed iron deficiency anemia. Liver MRI showed hepatomegaly with periportal tracking. His ALT and AST rose and he developed fatigue, jaundice, dark urine, and pale stools. Ceruloplasmin (CPN) was normal and his 24 hour urinary Cu was elevated at 236 μg. The patient was transferred to a transplant center for listing for presumed acute WD. Physical exam revealed jaundice without Kayser-Fleischer rings. Labs showed ALT: 1925 U/L, AST: 1203 U/L, ALP: 448 U/L, GGT: 232 U/L, TB: 8.7 mg/dL, DB: 5.8 mg/dL, INR: 0.97, albumin: 3.8 g/dL, alpha-1 antitrypsin: 219 mg/dL, and ASMA: 25.3 units. Repeat 24 hour urinary Cu was 85 μg. Liver biopsy showed portal triads with dense lympho-plasmacytic infiltrates with moderate to severe interface hepatitis and negative copper staining, suggestive of AIH. Prednisone was started with notable clinical improvement. Discussion: Our patient had a normal CPN level and an elevated 24 hour urinary Cu suggestive of WD, but was misleading. During the acute icteric phase of hepatitis, metabolism of Cu can be altered leading to a false suggestion of WD. Low CPN levels, increased urinary Cu, and normal or increased serum Cu levels can occur in liver injury regardless of etiology. Interestingly, his ALP/TB ratio was not less than 2, a lab finding typically seen in ALF from WD. This case highlights the importance of considering AIH in a case of ALF even when the patient has an abnormally high urinary Cu level.