Hereditary angioedema (HAE) is an autosomal dominant disease, characterized by edema attacks resulting from quantitative and/or functional deficiency of the C1 inhibitor (C1-INH), which acts in controlling the complement, coagulation, fibrinolysis, and contact systems. The exacerbation of these systems results in decreased circulating levels of kallikrein and conversion of bradykinin. In addition, thrombophilia is related to the deficiency of methylenetetrahydrofolate reductase (MTHFR) enzyme, causing an increase in homocysteine, accumulation of atheromatous plaques, and arterial and venous thrombosis. The association of these conditions in related systems brings greater clinical risks to the patient. We report a female patient, aged 23 years, with HAE and homozygous MTHFR mutation, G2A1, carrier of HAE with crises since early childhood. The first pregnancy terminated with abortion due to gestational sac detachment. In the second pregnancy, at 5.1 weeks, she had bleeding and partial detachment of gestational sac. Thrombophilia tests confirmed homozygosity for the MTHFR enzyme. At the beginning of gestation, she had attacks of angioedema treated with fresh plasma, and at one occasion, she received treatment with a plasma-derived C1-INH esterase. During breastfeeding, she received prophylaxis with plasma-derived C1-INHdp. The course of HAE during pregnancy worsened. There are studies that discuss the occurrence of abortion due to attacks of angioedema. The patient's disease was associated with a homozygous MTHFR mutation, which probably caused the miscarriage. The control of both clinical situations is important for the success of pregnancy, so a combined action plan between obstetricians and HAE treatment specialists is essential.

中文翻译：

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妊娠期间遗传性血管性水肿 I 型和纯合 MTHFR 突变的管理。

遗传性血管性水肿 (HAE) 是一种常染色体显性遗传疾病，其特征是由 C1 抑制剂 (C1-INH) 的数量和/或功能缺陷引起的水肿发作，C1 抑制剂在控制补体、凝血、纤溶和接触系统中起作用。这些系统的恶化导致激肽释放酶的循环水平降低和缓激肽的转化。此外，易栓症与亚甲基四氢叶酸还原酶（MTHFR）酶缺乏有关，导致同型半胱氨酸增加、动脉粥样硬化斑块积聚、动静脉血栓形成。这些疾病在相关系统中的关联给患者带来了更大的临床风险。我们报告了一名 23 岁的女性患者，她患有 HAE 和纯合 MTHFR 突变 G2A1，是 HAE 的携带者，从幼儿时期开始就有危机。由于妊娠囊脱离，第一次怀孕以流产终止。在第二次怀孕时，在 5.1 周时，她出现了出血和孕囊部分脱离。血栓形成试验证实了 MTHFR 酶的纯合性。在妊娠初期，她曾用新鲜血浆治疗血管性水肿发作，有一次，她接受了血浆来源的 C1-INH 酯酶治疗。在母乳喂养期间，她接受了血浆来源的 C1-INHdp 的预防。怀孕期间 HAE 的病程恶化。有研究讨论了由于血管性水肿发作而导致的流产。该患者的疾病与 MTHFR 纯合突变有关，这可能导致流产。控制这两种临床情况对于成功怀孕很重要，