Novel XIAP mutation in early-onset Crohn’s disease complicated with Acute Heart Failure: a case report

Background: The X-linked inhibitor of apoptosis (XIAP) protein is encoded by the XIAP gene and is critical for multiple cell responses. XIAP plays a role in preventing cell death.We report the clinical features and results of hemizygous mutation of the XIAP gene in a young male died due to Crohn’s disease complicated with Acute Heart Failure.A young male of 16 years of age died due to no available therapy. Case presentation A young male of 16 years of age was initially diagnosed with Crohn's disease based on evidence from endoscopic and histological findings. Although supporting care, anti-infective drugs and biologics were applied consecutively for 11 months, his clinical manifestations and laboratory indices (patient’s condition) were not improved. This was followed by poor a nutritional status and sustained weight loss. Subsequently, acute heart failure ledto exacerbation of the patient’s condition. Therefore, he was diagnosed with wet beriberi according to thiamine deficiency, but standard medical therapy for heart failure and thiamine supplementation did notreverse the adverse outcomes. Finally, comprehensive genetic analysis of peripheral blood-derived DNA revealed a novel hemizygous mutation of the XIAP gene (c.1259_1262 delACAG), which was inherited from his mother. Conclusion: The novel XIAP mutation (c.1259_1262 delACAG) was identified in this study. It may be an important cause of Crohn's disease and plays an important role in the progression of heart failure. Additionally,thiamine deficiency triggers avicious cycle.