Susheela Ammu Thampi, Hale Andrew
Division of Anesthesia and Critical Care, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
Department of Infectious Diseases, University of Vermont Medical Center and Larner College of Medicine, Boston, Massachusetts, USA.
BMJ Case Rep. 2017 Oct 13;2017:bcr-2017-221657. doi: 10.1136/bcr-2017-221657.
Common variable immunodeficiency (CVID), characterised by disordered B cell function, is one of the most common primary immunodeficiency disorders. Patients with CVID are at lifelong risk of recurrent infections, particularly of the respiratory and gastrointestinal tracts. Paradoxically, given their immunocompromised state, patients with CVID are also at significantly increased risk of autoimmune disorders, which are seen in almost 25% of cases. The authors report a 24-year-old female patient with CVID, manifested as severe hypogammaglobulinaemia with recurrent sinopulmonary infections and enterocolitis, who presented with transaminitis, chronic diarrhoea and haematemesis. No infectious aetiologies were identified. She was diagnosed with coeliac disease after a small bowel biopsy and positive response to gluten-free diet. Haematemesis was attributed to portal hypertension due to liver cirrhosis, which was confirmed via liver biopsy. Coeliac disease can be a cause of diarrhoea in patients with immunodeficiency disorders and is often underdiagnosed. It can also be the underlying source of liver disease and is an often under-recognised cause of cirrhosis. The case presented emphasises the paradoxical and challenging relationship that patients with CVID face between immunodeficiency and autoimmune disorders, and also highlights that coeliac disease is an under-recognised cause of liver disease.
常见变异型免疫缺陷(CVID)的特征是B细胞功能紊乱,是最常见的原发性免疫缺陷疾病之一。CVID患者终生有反复感染的风险,尤其是呼吸道和胃肠道感染。矛盾的是,鉴于其免疫功能低下的状态,CVID患者患自身免疫性疾病的风险也显著增加,几乎25%的病例会出现这种情况。作者报告了一名24岁的CVID女性患者,表现为严重低丙种球蛋白血症,伴有反复的鼻窦肺部感染和小肠结肠炎,出现了转氨酶升高、慢性腹泻和呕血。未发现感染性病因。小肠活检及对无麸质饮食的阳性反应后,她被诊断为乳糜泻。呕血归因于肝硬化导致的门静脉高压,这通过肝脏活检得到证实。乳糜泻可能是免疫缺陷疾病患者腹泻的原因,且常被漏诊。它也可能是肝脏疾病的潜在病因,并且是肝硬化一个常未被认识到的病因。该病例强调了CVID患者在免疫缺陷和自身免疫性疾病之间面临的矛盾且具有挑战性的关系,同时也突出了乳糜泻是肝脏疾病一个未被充分认识的病因。