2402 A Rare Case of IPEX Syndrome With Hepatic Complications

Abstract

INTRODUCTION: Immunodysregulation, polyendocrinopathy and enteropathy X-linked (IPEX) Syndrome is a rare autoimmune illness affecting only males starting in the early few months of life. It can be associated with autoimmune hepatitis among other systemic ailments and ultimate treatment is immunosuppression or bone marrow transplant. We present a case of undiagnosed IPEX Syndrome leading to liver failure requiring eventual liver transplantation. CASE DESCRIPTION/METHODS: A 19 year-old male patient had undergone a liver transplant at age 2 for suspected autoimmune hepatitis resulting in acute liver failure. No specific cause was identified at time of diagnosis. He remained on chronic immunosuppression thereafter, eventually progressing to chronic active autoimmune hepatitis in the transplanted liver. He was diagnosed with IPEX Syndrome at age 16, for which he underwent a bone marrow transplant. He presented to the hospital with neutropenia, and hepatology was consulted for liver transplant rejection in light of mild transaminitis. On admission, vital signs were normal and pertinent labs include: AST/ALT 50/74 units/L, Alkaline Phosphatase 811 IU/L, Albumin 3.4 g/dL, WBC 0.6 × 109 cells/L. He reportedly had multiple episodes of acute rejection in the past which were treated with steroids. Chronically, he was on mycophenolate mofetil, tacrolimus, and prednisone. His liver biopsy did not show evidence of acute rejection, but suggested chronic rejection and liver fibrosis. A prior liver biopsy had suggested autoimmune hepatitis, but no evidence of a flare on current biopsy. He was continued on his current immunosuppression regimen, and he was subsequently discharged home. DISCUSSION: Due to its rarity, incidence of IPEX syndrome is not entirely known, but is estimated to be 1 in 1,609,490. Generally, it is diagnosed in infancy and is often fatal. Our case is unique as the diagnosis was missed for more than a decade during which period the patient had even received a liver transplant for autoimmune hepatitis. Autoimmune hepatitis reportedly occurs in 20% of patients with IPEX Syndrome. There are currently no reports of liver failure requiring liver transplant in such scenarios. The fact that our patient developed recurrent autoimmune hepatitis in the transplanted liver highlights the underlying defect in his genetic disorder. This case should serve as a reminder to clinicians to consider IPEX syndrome in the differential for early onset autoimmune hepatitis, as early diagnosis could reduce significant morbidity.