Pinhal Ana Luísa, Santos Natacha, Dias de Castro Eunice
Department of Allergy and Clinical Immunology, Unidade Local de Saúde de São João, Porto, Portugal.
Department of Immunoallergology, Unidade Local de Saúde do Algarve, Faro, Portugal.
Front Allergy. 2025 Jul 2;6:1604440. doi: 10.3389/falgy.2025.1604440. eCollection 2025.
Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of subcutaneous and/or submucosal angioedema. Pregnancy and breastfeeding may be associated with an increased frequency of attacks. Plasma-derived C1 inhibitor (pdC1INH) is the recommended first-line treatment for long-term prophylaxis (LTP) in these special populations. The pdC1INH currently available in Portugal is one intravenous (IV) formulation not approved for LTP, as are the other IV and subcutaneous (SC) formulations. This report documents the first cases of SC pdC1INH use during pregnancy and breastfeeding in Portugal. It describes two cases of 37-year-old women with HAE type 1 treated with SC pdC1INH as LTP during pregnancy and lactation. Both patients had been previously treated with tranexamic acid. In the first case, the patient was started on IV pdC1INH at 8 weeks' gestation due to clinical deterioration. Due to difficult IV access and inability to space out administrations, SC pdC1INH at a dose of 4,000 U (∼43.5 U/kg) every 72 h was started at 21 weeks' gestation. Administration intervals were progressively increased to 96 and later 120 h. LTP was continued throughout lactation. In the second case, LTP was not administered during pregnancy. However, after delivery, the patient experienced a worsening of angioedema episodes during breastfeeding, which persisted despite tranexamic acid treatment. SC pdC1INH was started six months postpartum at a dose of 2,000 U (∼45 U/kg) twice weekly. The administration interval was later increased to 120 h. Both patients remained free of angioedema episodes and reported no systemic adverse events. The safety of SC pdC1INH was consistent with reports in the literature. Overall, these positive results support the future use of SC pdC1INH in a broader population of pregnant and lactating women in clinical practice.
遗传性血管性水肿（HAE）是一种罕见的遗传性疾病，其特征为皮下和/或黏膜下血管性水肿反复发作。妊娠和哺乳可能与发作频率增加有关。血浆源性C1抑制剂（pdC1INH）是这些特殊人群长期预防（LTP）的推荐一线治疗药物。葡萄牙目前可用的pdC1INH是一种未被批准用于LTP的静脉注射（IV）制剂，其他IV和皮下（SC）制剂也是如此。本报告记录了葡萄牙在妊娠和哺乳期间使用SC pdC1INH的首例病例。它描述了两名37岁的1型HAE女性患者，在妊娠和哺乳期间接受SC pdC1INH作为LTP治疗。两名患者此前均接受过氨甲环酸治疗。在第一个病例中，由于临床病情恶化，患者在妊娠8周时开始使用IV pdC1INH。由于静脉通路困难且无法安排给药间隔，在妊娠21周时开始每72小时皮下注射4000 U（约43.5 U/kg）的SC pdC1INH。给药间隔逐渐增加至96小时，随后增加至120小时。整个哺乳期持续进行LTP。在第二个病例中，妊娠期间未进行LTP治疗。然而，分娩后，患者在母乳喂养期间血管性水肿发作恶化，尽管接受了氨甲环酸治疗仍持续存在。产后六个月开始皮下注射SC pdC1INH，剂量为每周两次，每次2000 U（约45 U/kg）。给药间隔后来增加至120小时。两名患者均未出现血管性水肿发作，且未报告全身性不良事件。SC pdC1INH的安全性与文献报道一致。总体而言，这些阳性结果支持未来在临床实践中更广泛的妊娠和哺乳期妇女群体中使用SC pdC1INH。
