Jakes Adam D, Thorne Iona, Guly John, Kiani-Alikhan Sorena, Banerjee Anita
Guy's & St. Thomas' Hospital NHS Trust, St. Thomas' Hospital, London, UK.
Royal Free London NHS Foundation Trust, Royal Free Hospital, London, UK.
Obstet Med. 2021 Sep;14(3):177-180. doi: 10.1177/1753495X20958225. Epub 2020 Oct 7.
Hereditary angioedema (HAE) is a rare genetic condition associated with episodic swelling due to dysfunction of bradykinin regulation pathways. This is most frequently caused by low level and/or function of the C1-esterase inhibitor protein (C1INH) which is known as hereditary angioedema with C1 inhibitor deficiency (C1INH-HAE). Pregnancy and labour can precipitate an attack, but the majority of women have an uncomplicated, spontaneous vaginal delivery. Intravenous C1INH is the first-line therapy in pregnancy and breastfeeding. It should be given if any obstetric intervention is planned. Routine prophylactic administration for uncomplicated vaginal birth is not mandatory but may be appropriate if symptoms recur frequently during the third trimester. Pregnant women with C1INH-HAE should deliver in a hospital with C1INH replacement, fiberoptic intubation and front-of-neck access equipment readily available. A documented treatment plan should be developed within a multi-disciplinary team to pre-empt complications. We describe a case of C1INH-HAE diagnosed in pregnancy.
遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，与缓激肽调节途径功能障碍导致的发作性肿胀有关。这最常见的原因是C1酯酶抑制蛋白（C1INH）水平低和/或功能异常，即遗传性血管性水肿伴C1抑制剂缺乏（C1INH-HAE）。妊娠和分娩可诱发发作，但大多数女性会有顺利的自然阴道分娩。静脉注射C1INH是妊娠和哺乳期的一线治疗方法。如果计划进行任何产科干预，都应给予该治疗。对于顺利的阴道分娩，常规预防性给药并非必需，但如果在妊娠晚期症状频繁复发，可能是合适的。患有C1INH-HAE的孕妇应在有C1INH替代物、纤维光导插管和颈部前方通路设备的医院分娩。应在多学科团队内制定书面治疗计划，以预防并发症。我们描述了一例在妊娠期间诊断出的C1INH-HAE病例。
