Introduction: Acquired angioedema with C1 inhibitor deficiency (AAE-C1-INH) is rare but a potentially life-threatening disease. There are no official prevalence data, nor approved therapies for this condition. Objective: In this study, we aimed to collect and analyze clinical data on patients with AAE-C1-INH in the Czech Republic. Methods: We have conducted a retrospective analysis of AAE-C1-INH patients from Czech referral centers for the treatment of hereditary angioedema with C1 inhibitor deficiency. The inclusion criteria involved recurrent episodes of angioedema with the first manifestation at or after the age of 40, negative family history of angioedema, and C1 inhibitor function 50% or less. Results: A total of 14 patients (7 males and 7 females) met the inclusion criteria for AAE-C1-INH. The median age of the symptom onset was 59.5 years, and the median diagnosis delay was 1 year. The most common clinical manifestation was facial edema (100%) and upper airway swelling (85.7%). All patients responded to the acute attack treatment with icatibant and plasma-derived or recombinant C1 inhibitor concentrate. Lymphoid malignancy was identified in 9 patients (64%), monoclonal gammopathy of uncertain significance in 3 (21%), and in 1 patient autoimmune disease (ulcerative colitis) was considered causative (7%). We were not able to identify any underlying disease only in 1 patient (7%). In 6 of 7 patients (86%) treated for lymphoma, either a reduction in the frequency of angioedema attacks or both angioedema symptoms’ disappearance and complement parameter normalization was observed. Conclusions: The prevalence of AAE-C1-INH in the Czech Republic is about 1:760,000. This rare condition occurs in approximately 8% of the patients with angioedema with C1 inhibitor deficiency. AAE-C1-INH is strongly associated with lymphoproliferative disorders, and treating these conditions may improve the control of angioedema symptoms.
Int Arch Allergy Immunol

中文翻译：

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C1 抑制剂缺乏的获得性血管性水肿：发生、临床特征和治疗：捷克共和国患者的全国回顾性研究

简介： C1 抑制剂缺乏症 (AAE-C1-INH) 的获得性血管性水肿是一种罕见但可能危及生命的疾病。没有官方的流行数据，也没有针对这种情况的批准疗法。目的：在本研究中，我们旨在收集和分析捷克共和国 AAE-C1-INH 患者的临床数据。方法：我们对来自捷克转诊中心的 AAE-C1-INH 患者进行了一项回顾性分析，这些患者用于治疗 C1 抑制剂缺乏的遗传性血管性水肿。纳入标准包括血管性水肿复发发作，首次表现在 40 岁或之后，血管性水肿阴性家族史，C1 抑制剂功能不超过 50%。结果：共有 14 名患者（7 名男性和 7 名女性）符合 AAE-C1-INH 的纳入标准。出现症状的中位年龄为 59.5 岁，中位诊断延迟为 1 年。最常见的临床表现是面部水肿（100%）和上呼吸道肿胀（85.7%）。所有患者都对艾替班特和血浆来源或重组 C1 抑制剂浓缩物的急性发作治疗有反应。在 9 名患者 (64%) 中确定了淋巴恶性肿瘤，在 3 名 (21%) 中确定了意义不明的单克隆丙种球蛋白病，在 1 名患者中，自身免疫性疾病（溃疡性结肠炎）被认为是病因 (7%)。我们仅在 1 名患者 (7%) 中无法确定任何潜在疾病。在接受淋巴瘤治疗的 7 名患者中有 6 名 (86%)，结论：捷克共和国 AAE-C1-INH 的患病率约为 1:760,000。这种罕见的情况发生在大约 8% 的 C1 抑制剂缺乏的血管性水肿患者中。AAE-C1-INH 与淋巴组织增生性疾病密切相关，治疗这些疾病可能会改善对血管性水肿症状的控制。
Int Arch 过敏免疫