Department of Dermatology, Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.
Department of Medical Psychology and Medical Sociology, Johannes Gutenberg University, Mainz, Germany.
Orphanet J Rare Dis. 2019 Mar 13;14(1):65. doi: 10.1186/s13023-019-1043-3.
Acquired angioedema due to C1-inhibitor (C1-INH) deficiency (AAE-C1-INH) is a serious condition that may result in life-threatening asphyxiation due to laryngeal edema. It is associated with malignant B-cell lymphoma and other disorders. The purpose of this study was to describe the characteristics and associated disorders of patients with AAE-C1-INH and assess the efficacy of plasma-derived C1-INH concentrate (pdC1-INH) in the treatment of AAE-C1-INH. Forty-four patients with AAE-C1-INH from the Angioedema Outpatient Service of Mainz were assessed for associated disorders. In 32 of these patients, the duration of swelling attacks was measured before and after treatment with pdC1-INH (Berinert® (CSL Behring, Marburg, Germany)). The time between injection and complete resolution of symptoms and treatment effectiveness was provided by the patients.
The following underlying disorders were present: monoclonal gammopathy of undetermined significance (47.7%), non-Hodgkin lymphoma (27.3%), anti-C1-INH autoantibodies alone (11.4%), and other conditions (4.5%). In 9.1% patients, no associated disorder could be found. AAE-C1-INH led to the detection of lymphoma in 75% of patients with the malignancy. Treatment with pdC1-INH shortened attacks by an average (SD) 54.4 (± 32.8) hours (P < 0.0001). The earlier the attack was treated, the shorter the time between injection and resolution of symptoms (P = 0.0149). A total of 3553 (97.7%) of the 3636 attacks were effectively treated with pdC1-INH as assessed by the patient. The mean (SD) dose per-attack was 787 (± 442) U. pdC1-INH was effective in 1246 (93.8%) of 1329 attacks in 8 patients with anti-C1-INH autoantibodies and in 344 (99.4%) of 346 attacks in 6 patients without autoantibodies. The average (SD) dose per effectively treated attack was 1238.4 (± 578.2) U in patients with anti-C1-INH autoantibodies and 510.2 (± 69.1) U in patients without autoantibodies.
pdC1-INH is highly effective in treating AAE-C1-INH patients and is also effective in the vast majority of attacks in patients with anti-C1-INH autoantibodies. It is fast-acting and reduces attack duration.
由于 C1 抑制剂（C1-INH）缺乏（AAE-C1-INH）引起的获得性血管性水肿是一种严重的疾病，可能由于喉头水肿导致危及生命的窒息。它与恶性 B 细胞淋巴瘤和其他疾病有关。本研究的目的是描述 AAE-C1-INH 患者的特征和相关疾病，并评估血浆衍生的 C1-INH 浓缩物（pdC1-INH）在治疗 AAE-C1-INH 中的疗效。对美因茨血管性水肿门诊服务的 44 名 AAE-C1-INH 患者进行了相关疾病评估。在其中 32 名患者中，在使用 pdC1-INH（Berinert®（CSL Behring，马尔堡，德国））治疗前后测量了肿胀发作的持续时间。患者提供了注射和症状完全缓解之间的时间以及治疗效果。
存在以下基础疾病：意义未明的单克隆丙种球蛋白血症（47.7%），非霍奇金淋巴瘤（27.3%），单独的抗 C1-INH 自身抗体（11.4%）和其他疾病（4.5%）。在 9.1%的患者中，找不到相关疾病。AAE-C1-INH 导致 75%的恶性肿瘤患者检测到淋巴瘤。使用 pdC1-INH 治疗平均（SD）缩短了 54.4（±32.8）小时（P<0.0001）的发作时间。发作越早治疗，注射和症状缓解之间的时间越短（P=0.0149）。根据患者评估，pdC1-INH 总共有效治疗了 3553（97.7%）次 3636 次发作。每次发作的平均（SD）剂量为 787（±442）U。在 8 名抗 C1-INH 自身抗体患者的 1246（93.8%）次发作和 6 名无自身抗体患者的 344（99.4%）次发作中，pdC1-INH 有效。在有抗 C1-INH 自身抗体的患者中，每次有效治疗的平均（SD）剂量为 1238.4（±578.2）U，在无自身抗体的患者中为 510.2（±69.1）U。
pdC1-INH 治疗 AAE-C1-INH 患者非常有效，在大多数抗 C1-INH 自身抗体患者的发作中也有效。它起效快，可缩短发作时间。
