Hereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH). The prevalence of autoimmune diseases (ADs) in patients with HAE appears to be higher than the general population. A systematic literature review was conducted to examine the co-occurrence between HAE and ADs. PubMed/EMBASE were searched for English-language reviews, case reports, observational studies, retrospective studies, and randomized controlled trials up to 04/15/2018 (04/15/2015-04/15/2018 for EMBASE) that mentioned patients with HAE Type I or II and comorbid ADs. Non-human or in vitro studies and publications of C1-INH deficiency secondary to lymphoproliferative disorders or angiotensin-converting-enzyme inhibitors were excluded. Of the 2880 records screened, 76 met the eligibility criteria and 155 individual occurrences of co-occurring HAE and AD were mentioned. The most common ADs were systemic lupus erythematosus (30 mentions), thyroid disease (21 mentions), and glomerulonephritis (16 mentions). When ADs were grouped by MedDRA v21.0 High Level Terms, the most common were: Lupus Erythematosus and Associated Conditions, n = 52; Endocrine Autoimmune Disorders, n = 21; Gastrointestinal Inflammatory Conditions, n = 16; Glomerulonephritis and Nephrotic Syndrome, n = 16; Rheumatoid Arthritis and Associated Conditions, n = 11; Eye, Salivary Gland and Connective Tissue Disorders, n = 10; and Immune and Associated Conditions Not Elsewhere Classified, n = 5. Based on literature reports, systemic lupus erythematosus is the most common AD co-occurring with HAE Type I and II. Cause and effect for co-occurring HAE and AD has not been clinically established but could be related to lack of sufficient C1-INH function.

中文翻译：

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C1酯酶抑制剂缺乏症与自身免疫性疾病的共存：系统文献综述。

遗传性血管性水肿 (HAE) 是由 SERPING1 基因缺陷引起的，导致 C1 酯酶抑制剂 (C1-INH) 减少 (I 型) 或功能失调 (II 型)。HAE 患者自身免疫性疾病 (AD) 的患病率似乎高于一般人群。进行了系统的文献回顾以检查 HAE 和 AD 之间的共现。PubMed/EMBASE 搜索了截至 2018 年 4 月 15 日（EMBASE 为 04/15/2015-04/15/2018）的英语评论、病例报告、观察性研究、回顾性研究和随机对照试验，这些试验提到了患有以​​下疾病的患者HAE I 型或 II 型和合并的 AD。排除了继发于淋巴增殖性疾病或血管紧张素转换酶抑制剂的 C1-INH 缺乏的非人类或体外研究和出版物。在筛选的 2880 条记录中，76 人符合资格标准，155 人同时发生 HAE 和 AD。最常见的 AD 是系统性红斑狼疮（30 次提及）、甲状腺疾病（21 次提及）和肾小球肾炎（16 次提及）。当 AD 按 MedDRA v21.0 高级术语分组时，最常见的是：红斑狼疮和相关疾病，n = 52；内分泌自身免疫性疾病，n = 21；胃肠道炎症条件，n = 16；肾小球肾炎和肾病综合征，n = 16；类风湿性关节炎和相关疾病，n = 11；眼睛、唾液腺和结缔组织疾病，n = 10；和未在其他地方分类的免疫和相关疾病，n = 5。根据文献报道，系统性红斑狼疮是与 HAE I 型和 II 型同时发生的最常见的 AD。