Emelyanov A V, Leshenkova E V, Kameneva G A
Mechnikov North-Western State Medical University.
Arkhangelsk Regional Clinical Hospital.
Ter Arkh. 2020 Dec 15;92(12):86-90. doi: 10.26442/00403660.2020.12.200447.
Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.
C1抑制物水平正常的遗传性血管性水肿（HAE）是一种罕见的、具有常染色体显性遗传的潜在危及生命的疾病，于2000年首次被描述。其临床表现与C1缺乏的HAE相似。本综述总结了关于其患病率、发病机制、遗传学和诊断标准的数据。讨论了不同的亚型和治疗选择（按需治疗、短期和长期预防）。我们描述了2例C1抑制物和纤溶酶原基因突变的女性患者的家族临床病例。她们的特点是诊断较晚（症状出现后10年和25年）、家族史（同一家族的3名女性成员有相似的基因突变，其中1名无症状）以及患者及其姐妹出现面部、舌头、喉部和腹部血管性水肿的组合症状。
