2361 A Rare Presentation of Acute Hepatitis in the Setting of Wilson’s Disease

Abstract

INTRODUCTION: Wilson’s disease is a genetic disorder that leads to impairment in the transportation of cellular copper. The worldwide incidence of Wilson’s disease is estimated at one per 30,000 live births. Autoimmune hepatitis (AIH) has a varying degree of prevalence, anywhere from 0.9-25 cases per 100,000 globally. We describe a rare case of a patient presenting with acute hepatitis in the setting of known Wilson’s disease with nonadherence to therapy who was diagnosed with concomitant autoimmune hepatitis. CASE DESCRIPTION/METHODS: A 19-year-old woman with a history of biopsy-proven Wilson’s disease diagnosed at age 17, non-adherent to trientine chelation therapy, presented to her primary care physician with nausea and abdominal pain. Physical exam was benign and workup revealed an elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT) of 1500. She was referred for hospital admission. Acute viral hepatitis was ruled out and trientine was resumed as it was felt the presentation may be due to untreated Wilson’s Disease. Evaluation for drug-induced liver injury, human immunodeficiency virus, and thrombosis was negative. Despite therapy with trientine, transaminases continued to rise. Autoimmune serologies revealed a positive anti-smooth muscle antibody. A liver biopsy showed copper granules in hepatocytes consistent with Wilson’s disease, in addition to moderately active hepatitis with frequent plasma cells supporting the diagnosis of AIH. Prednisone was initiated for treatment of AIH and her hepatitis rapidly improved. One week follow up showed further improvement in her liver chemistries. She was transitioned to azathioprine for AIH. Trientine was continued for treatment of Wilson’s disease. DISCUSSION: Given the multiple causes of acute hepatitis and targeted therapies available, determining the etiology remains the cornerstone of management. This is an unusual case of biopsy-proven Wilson’s disease who presented with acute hepatitis. She was found to have serology and biopsy consistent with both Wilson’s disease and AIH. She responded rapidly to steroid therapy for AIH followed by treatment with an immunomodulator. This combination of a rare inherited disease coupled with an uncommon autoimmune phenomenon highlights the need for diagnostic precision in the patient with acute hepatitis, even when pre-existing liver disease is known. Ultimately liver biopsy findings directed specific therapy.