Hungarian Angioedema Center, 3(rd) Department of Internal Medicine, Semmelweis University, Kútvölgyi street 4, Budapest, H-1125, Hungary.
Immunol Lett. 2017 Sep;189:90-93. doi: 10.1016/j.imlet.2017.05.015. Epub 2017 May 31.
Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is a rare, autosomal dominant disorder. The characteristic episodes of subcutaneous/submucosal edema formation may be preceded by erythema marginatum (EM) - the occurrence of a 'map-like' pattern on the skin. EM can occur as an isolated finding or accompanying a hereditary angiooedema (HAE) attack as well. Nevertheless, it is unknown whether a HAE attack can be prevented by the proper prophylactic treatment during EM.
Our aim was to assess the prevalence of EM in the Hungarian C1-INH-HAE population and to introduce a safe and effective novel prophylactic treatment during EM in patients who's HAE attacks are preceded by EM in a considerable proportion of the cases.
Based on the data of the Hungarian HAE Registry, 49 among 173 C1-INH-HAE patients (28.3%) from 32 families had EM in their life. According to the clinical data and the patient's HAE diaries, two patients (Patient #1, Patient #2) were selected who frequently had EM as a prodromal symptom. Both patients were instructed to administer plasma-derived C1-inhibitor concentrate (pdC1-INH) as soon as possible after the onset of EM, in order to prevent the development of HAE attack. Interestingly, HAE attacks never developed if pdC1-INH was administered within 6h from the occurrence of EM in both patients. In contrast, without pdC1-INH treatment, in Patient 1 and Patient 2, 97.0% and 44.3% of the EM were followed by a HAE attack, respectively (p<0.0001, Fisher's exact test).
As a novel prophylaxis in C1-INH-HAE, intravenous administration of pdC1-INH concentrate during EM might be an effective, individual therapeutic strategy in those patients who's HAE attacks are often preceded by EM. Besides it can improve the quality of life of these selected patients, pdC1-INH administration during EM provides the lowest effective dose for the prophylaxis of their HAE attacks.
C1 酯酶抑制剂缺乏遗传性血管性水肿(C1-INH-HAE)是一种罕见的常染色体显性遗传疾病。皮下/黏膜下水肿形成的特征性发作可能先于红斑性边缘疹(EM)出现——即在皮肤上出现“地图样”模式。EM 可作为孤立性发现出现,也可伴随遗传性血管性水肿(HAE)发作出现。然而,目前尚不清楚在 EM 期间进行适当的预防性治疗是否可以预防 HAE 发作。
我们的目的是评估匈牙利 C1-INH-HAE 人群中 EM 的患病率,并介绍一种安全有效的新型预防性治疗方法,即在相当一部分 HAE 发作之前以 EM 为前驱症状的患者中使用。
根据匈牙利 HAE 登记处的数据,在 32 个家族的 173 名 C1-INH-HAE 患者中,有 49 名(28.3%)一生中患有 EM。根据临床数据和患者的 HAE 日记,选择了两名经常以 EM 为前驱症状的患者(患者 1、患者 2)。两名患者均被指示在 EM 发作后尽快给予血浆衍生的 C1 抑制剂浓缩物(pdC1-INH),以预防 HAE 发作。有趣的是,如果在 EM 发作后 6 小时内给予 pdC1-INH,两名患者均从未发生 HAE 发作。相比之下,在未给予 pdC1-INH 治疗的情况下,患者 1 和患者 2 的 EM 分别有 97.0%和 44.3%发展为 HAE 发作(p<0.0001,Fisher 精确检验)。
作为 C1-INH-HAE 的一种新型预防方法,在 EM 期间静脉内给予 pdC1-INH 浓缩物可能是一种有效、个体化的治疗策略,适用于那些经常以 EM 为前驱症状的 HAE 发作患者。此外,它可以改善这些选定患者的生活质量,在 EM 期间给予 pdC1-INH 还可以提供预防 HAE 发作的最低有效剂量。