病例报告：伪装为胃肠炎的遗传性血管性水肿

文献信息

中文摘要

遗传性血管性水肿伴C1抑制物缺乏（HAE-C1INH）是一种罕见的缓激肽介导疾病，可能主要表现为胃肠道症状，导致诊断延迟和不必要的干预。我们报告一名26岁男性，自2022年以来反复出现腹痛、水样腹泻、肠壁水肿和一过性腹水，多次被误诊为感染性胃肠炎。他还报告反复出现手部和足部肿胀。补体检测显示C4降低和C1抑制物功能降低，重复检测证实C1抑制物抗原和功能降低，支持1型HAE-C1INH。随访期间，基因检测发现SERPING1基因杂合可能致病性无义变异，NM_000062.3:c.1480C>T（p.Arg494Ter/R494*）。对50名亲属的家庭调查发现13名临床疑似受累个体，其中三人据报告死于喉水肿；先证者和两名亲属可获得实验室确认。本病例强调，反复发作、自限性腹部发作伴一过性腹水应促使进行C4和C1抑制物检测及家庭咨询。

英文摘要

Hereditary angioedema with C1-inhibitor deficiency (HAE-C1INH) is a rare bradykinin-mediated disorder that may present predominantly with gastrointestinal symptoms, leading to diagnostic delay and unnecessary interventions. We report a 26-year-old man with recurrent abdominal pain, watery diarrhea, bowel wall edema, and transient ascites since 2022, repeatedly misdiagnosed as infectious gastroenteritis. He also reported recurrent hand and foot swelling. Complement testing showed low C4 and reduced C1-inhibitor function, and repeat testing confirmed low C1-inhibitor antigen and function, supporting type 1 HAE-C1INH. During follow-up, genetic testing identified a heterozygous likely pathogenic nonsense variant in SERPING1, NM_000062.3:c.1480C>T (p.Arg494Ter/R494*). Family investigation of 50 relatives identified 13 clinically suspected affected individuals, including three who reportedly died from laryngeal edema; laboratory confirmation was available for the proband and two relatives. This case emphasizes that recurrent, self-limited abdominal attacks with transient ascites should prompt C4 and C1-inhibitor testing and family counseling.