获得性C1抑制剂缺乏(AAE-C1-INH)是复发性血管性水肿的一个非常罕见的原因,文献中报道的病例很少。我们旨在描述一系列AAE-C1-INH患者在巴西血管性水肿参考中心诊断并接受治疗。隶属于巴西遗传性血管性水肿研究小组。
来自8个巴西血管性水肿参考中心的14名患者,诊断为AAE-C1-INH,包括在这项研究中。收集的临床数据包括性别,出生日期,症状出现的日期,诊断日期,血浆抗原性和/或功能性C1-INH水平,C4和C1q的水平,血管性水肿发作的位置和治疗,长期预防,相关疾病,和明确的治疗。
14例患者被确定为AAE-C1-INH。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;四分位数范围[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),直到诊断的中位时间为2年(范围,0-6年;IQR,1-3年)。最常见的表现是皮肤(面部,眼睑,嘴唇,树干,手,脚,和生殖器)。大多数患者的C4水平较低(13/14;92.8%)和抗原性C1-INH水平较低(8/14;57.1%)。4例患者的C1-INH功能活性降低(4/7;57.1%),5例患者的C1q水平较低(5/12;41.6%)。在所有14名患者中都发现了潜在的疾病,最常见的是脾边缘区淋巴瘤和意义不明的单克隆丙种球蛋白病。9例患者(64.2%)需要长期预防性治疗复发性血管性水肿,5例患者(46.7%)需要治疗血管性水肿发作。其中大多数(12/14;85.7%)有血管性水肿的消退。
AAE-C1-INH的治疗旨在控制症状;然而,潜在疾病的诊断和治疗,当存在时,应该是一个重要的目标,并可能导致AAE-C1-INH患者血管性水肿的消退。
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.