Piotrowicz-Wójcik Katarzyna, Porebski Grzegorz
Zakład Alergologii Klinicznej i Środowiskowej, Uniwersytet Jagielloński Collegium Medicum w Krakowie.
Otolaryngol Pol. 2020 Mar 31;74(2):1-5. doi: 10.5604/01.3001.0014.0619.
Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is a rare genetic disease that runs in the family. As a result of the disease, acute swellings of the subcutaneous tissue and mucous membranes of the digestive and respiratory systems, including the larynx, occur. Any attack of the disease involving the throat and larynx is particularly dangerous and requires knowledge of clinical determinants of the disease and its proper management.
The study included adult consecutive HAE-C1INH patients having follow-up visits in our centre. The group was examined with a structured clinical questionnaire, concerning the last 6 months and focusing particularly on laryngeal swelling attacks.
55 subjects (F/M - 35/20, age range - 18-76) were included in the study. Laryngeal attacks occurred in 19 individuals (34.5%): 1-3, 4-6, and ≥7 attacks in 9, 8 and 2 patients, respectively, two of whom required intubation. In comparison to other patients, subjects with laryngeal attacks were characterised by significantly more frequent: (1) facial attacks, (2) severe disease activity, (3) the occurrence of female patients, (4) mental stress as a trigger of attacks. All patients with laryngeal attacks had a rescue medication at home and 15/19 (78%) patients could use it at home. Most of them used plasma-derived C1-inhibitor 17/19 (89.5%) and icatibant, 8/19 (42.1%).
HAE-C1INH patients with laryngeal attacks require particular attention. Proper training regarding the identification of these patients, adequate management, access to emergency services and emergency drugs are essential to ensure the safety of subjects with this localization of HAE-C1INH attacks.
C1抑制物缺乏所致遗传性血管性水肿（HAE-C1INH）是一种家族性罕见遗传病。该病会导致皮下组织以及包括喉部在内的消化和呼吸系统黏膜急性肿胀。该病任何累及咽喉部的发作都特别危险，需要了解疾病的临床决定因素并进行恰当管理。
该研究纳入了在我们中心进行随访的成年连续性HAE-C1INH患者。采用结构化临床问卷对该组患者进行检查，问卷涉及过去6个月的情况，尤其关注喉部肿胀发作情况。
该研究纳入了55名受试者（女性/男性 - 35/20，年龄范围 - 18至76岁）。19名个体（34.5%）发生过喉部发作：9名、8名和2名患者分别发作1 - 3次、4 - 6次和≥7次，其中两名患者需要插管。与其他患者相比，发生喉部发作的受试者具有以下显著更频繁的特征：（1）面部发作，（2）疾病活动严重，（3）女性患者的出现，（4）精神压力作为发作诱因。所有发生喉部发作的患者家中都备有急救药物，19名患者中有15名（78%）在家中能够使用。他们中的大多数使用血浆源性C1抑制物，19名中有17名（89.5%），使用依卡替班的有8名（42.1%）。
发生喉部发作的HAE-C1INH患者需要特别关注。对这些患者进行关于识别、恰当管理、获得急救服务和急救药物的适当培训，对于确保HAE-C1INH发作定位于此的患者的安全至关重要。
