Valle Solange Oliveira Rodrigues, Alonso Maria Luiza Oliva, Dortas Junior Sérgio Duarte, Goudouris Ekaterini Simões, de Carvalho Ana Luiza Ribeiro Bard, Capelo Albertina Varandas, Mansour Eli, Bernardes Ana Flávia, Leite Luiz Fernando Bacarini, Giavina-Bianchi Pedro, Aun Marcelo Vivolo, Ferriani Mariana Paes Leme, Arruda Luisa Karla, Grumach Anete Sevciovic
Immunology Service, Department of Internal Medicine, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Immunology Service, Department of Internal Medicine, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil,
Int Arch Allergy Immunol. 2022;183(5):572-577. doi: 10.1159/000521646. Epub 2022 Mar 24.
Acquired deficiency of C1 inhibitor (AAE-C1-INH) is a very rare cause of recurrent angioedema, with few cases reported in the literature. We aimed to describe a series of patients with AAE-C1-INH who were diagnosed and received care at angioedema reference centers in Brazil, affiliated to the Brazilian Group of Studies on Hereditary Angioedema.
Fourteen patients from 8 Brazilian Angioedema Reference Centers, diagnosed with AAE-C1-INH, were included in this study. Clinical data collected included sex, date of birth, date of onset of symptoms, date of diagnosis, plasma levels of antigenic and/or functional C1-INH, levels of C4 and C1q, location and treatment of angioedema attacks, long-term prophylaxis, associated diseases, and definitive treatment.
Fourteen patients were identified with AAE-C1-INH. Most patients (10/14; 71.4%) were female. The median age at onset of symptoms was 56.5 years (range, 14-74 years; interquartile range [IQR], 32-64 years), and median age at diagnosis was 58.0 years (range, 20-76 years; IQR, 38-65 years), with a median time until diagnosis of 2 years (range, 0-6 years; IQR, 1-3 years). The most common manifestations were cutaneous (face, eyelids, lips, trunk, hands, feet, and genitals). Most patient had low levels of C4 (13/14; 92.8%) and of antigenic C1-INH (8/14; 57.1%). Four had decreased functional activity of C1-INH (4/7; 57.1%) and C1q levels were low in 5 patients (5/12; 41.6%). Underlying diseases were identified in all 14 patients, with lymphoma of the splenic marginal zone and monoclonal gammopathy of undetermined significance being the most frequent. Nine patients (64.2%) needed long-term prophylactic treatment for recurrent angioedema and 5 patients (46.7%) required treatment for angioedema attacks. Most of them (12/14; 85.7%) had resolution of angioedema.
Therapy of AAE-C1-INH aims to control symptoms; however, diagnosis and treatment of the underlying disease, when present, should be an important target and may lead to the resolution of angioedema in patients with AAE-C1-INH.
获得性C1抑制剂缺乏症（AAE-C1-INH）是复发性血管性水肿非常罕见的病因，文献报道的病例很少。我们旨在描述一系列在巴西遗传性血管性水肿研究小组下属的血管性水肿参考中心被诊断并接受治疗的AAE-C1-INH患者。
本研究纳入了来自巴西8个血管性水肿参考中心的14例被诊断为AAE-C1-INH的患者。收集的临床数据包括性别、出生日期、症状发作日期、诊断日期、抗原性和/或功能性C1-INH的血浆水平、C4和C1q水平、血管性水肿发作的部位和治疗、长期预防、相关疾病以及确定性治疗。
共识别出14例AAE-C1-INH患者。大多数患者（10/14；71.4%）为女性。症状发作的中位年龄为56.5岁（范围14 - 74岁；四分位间距[IQR]，32 - 64岁），诊断时的中位年龄为58.0岁（范围20 - 76岁；IQR，38 - 65岁），诊断前的中位时间为2年（范围0 - 6年；IQR，1 - 3年）。最常见的表现为皮肤症状（面部、眼睑、嘴唇、躯干、手部、足部和生殖器）。大多数患者C4水平较低（13/14；92.8%），抗原性C1-INH水平较低（8/14；57.1%）。4例患者C1-INH功能活性降低（4/7；57.1%），5例患者C1q水平较低（5/12；41.6%）。所有14例患者均发现有基础疾病，最常见的是脾边缘区淋巴瘤和意义未明的单克隆丙种球蛋白病。9例患者（64.2%）因复发性血管性水肿需要长期预防性治疗，5例患者（46.7%）因血管性水肿发作需要治疗。大多数患者（（12/14；85.7%）血管性水肿得到缓解。
AAE-C1-INH的治疗旨在控制症状；然而，存在基础疾病时，对其进行诊断和治疗应是一个重要目标，这可能会使AAE-C1-INH患者的血管性水肿得到缓解。
