A case of A20 haploinsufficiency complicated by autoimmune hepatitis

Abstract

AimA20 haploinsufficiency (HA20) is a recently described autoinflammatory disease that manifests symptoms similar to those of Bechet’s disease. However, little is known about the involvement of the liver in HA20. Herein, we report a case of HA20 complicated by autoimmune hepatitis (AIH).Case presentationA 33‐year‐old woman was previously diagnosed with HA20 and chronic thyroiditis and was treated with prednisolone (PSL) (7.5 mg/day) and levothyroxine sodium hydrate (125 µg/day). She experienced general malaise and jaundice, and biochemical evaluation revealed elevated liver function with an aspartate aminotransferase level of 817 U/L, an alanine aminotransferase level of 833 U/L, and a total bilirubin of 8.3 mg/dL. Pathological evaluation of the liver biopsy revealed interface hepatitis and the patient was diagnosed with acute exacerbation of AIH. Upon increasing the PSL dose to 60 mg/day, the liver enzyme levels rapidly decreased. During tapering of PSL, azathioprine 50 mg/day was added, and there was no relapse of AIH with combination therapy of PSL 7 mg/day and azathioprine 50 mg/day.ConclusionThis is the first report of biopsy‐proven AIH in an Asian patient with HA20. This case has significant implications for the pathogenesis and treatment of AIH in patients with HA20.This article is protected by copyright. All rights reserved.