Department of Dermatology, Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.
University Medicine, Ernst Moritz Arndt University, Greifswald, Germany.
Orphanet J Rare Dis. 2020 Feb 17;15(1):52. doi: 10.1186/s13023-020-1334-8.
Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. Aim of this observational, retrospective study is to report about the efficacy of various treatments for acute attacks and long-term prophylaxis.
The study included 111 patients with HAE-PLG. Thirteen patients were treated with icatibant for 201 acute swelling attacks. The mean duration of the treated attacks (mean 4.3 h; standard deviation [SD] 2.6 h) was significantly shorter than that of the previous 149 untreated attacks (mean 44.7 h; SD 28.6 h, p < 0.0001). Twelve patients were treated with plasma-derived C1-INH for 74 acute swelling attacks. The duration of the treated attacks (mean 31.5 h; SD 18.6 h) was significantly shorter than that of the previous 129 untreated in the same patients (mean 48.2 h; SD 32.5 h, p < 0.0001). Corticosteroids alone showed good response in 61/268 attacks (8 patients), low response in 82/268 attacks (7 patients), and no response in 125/268 attacks (26 patients). Corticosteroids combined with antihistamines showed good response in 13/309 attacks (4 patients), low response in 150/309 attacks (7 patients), and no response in 146/309 attacks (17 patients). Antihistamines alone were ineffective in all 37 attacks of 5 patients. In 2 patients with imminent asphyxiation due to tongue swelling and partial obstruction of the upper airways fresh frozen plasma was used without clinical response. The mean reduction in attack frequency was 46.3% under progestins (6 patients), 93.9% under tranexamic acid (3 patients) and 83.3% under danazol (3 patients).
For patients with HAE-PLG various treatment options are available, which completely or at least partially reduce attack duration or attack frequency.
具有正常 C1 抑制剂（C1-INH）和纤溶酶原基因（HAE-PLG）c.988A > G（p.Lys330Glu;p.K330E）变异的遗传性血管性水肿（HAE）患者与皮肤肿胀、腹痛发作以及因上呼吸道阻塞导致窒息的风险有关。本观察性、回顾性研究旨在报告各种急性发作和长期预防治疗的疗效。
该研究纳入了 111 例 HAE-PLG 患者。13 例患者接受依替巴肽治疗 201 次急性肿胀发作。接受治疗的发作（平均 4.3 h；标准差[SD]2.6 h）的平均持续时间明显短于之前 149 次未经治疗的发作（平均 44.7 h；SD 28.6 h，p<0.0001）。12 例患者接受血浆源性 C1-INH 治疗 74 次急性肿胀发作。接受治疗的发作（平均 31.5 h；SD 18.6 h）的平均持续时间明显短于同一患者之前 129 次未经治疗的发作（平均 48.2 h；SD 32.5 h，p<0.0001）。单独使用皮质类固醇在 268 次发作中的 61 次（8 例）中效果良好，在 268 次发作中的 82 次（7 例）中效果不佳，在 268 次发作中的 125 次（26 例）中无反应。皮质类固醇联合抗组胺药在 309 次发作中的 13 次（4 例）中效果良好，在 309 次发作中的 150 次（7 例）中效果不佳，在 309 次发作中的 146 次（17 例）中无反应。5 例患者的 37 次发作中单独使用抗组胺药均无效。在 2 例因舌肿胀和上呼吸道部分阻塞而有窒息危险的患者中，使用新鲜冷冻血浆但没有临床反应。孕激素（6 例）治疗可使发作频率平均降低 46.3%，氨甲环酸（3 例）治疗可使发作频率平均降低 93.9%，达那唑（3 例）治疗可使发作频率平均降低 83.3%。
对于 HAE-PLG 患者，有多种治疗选择，可完全或至少部分减少发作持续时间或发作频率。
