Fernández Romero Diego S, López Ana L
Department of Immunology and Histocompatibility, Hospital Dr Carlos G. Durand, Buenos Aires, Argentina.
Department of Allergy and Immunology, Hospital Británico, Buenos Aires, Argentina.
Eur J Case Rep Intern Med. 2023 Feb 28;10(3):003693. doi: 10.12890/2023_003693. eCollection 2023.
Hereditary angioedema is a rare hereditary and potentially life-threatening disorder characterized by recurrent attacks of cutaneous and submucosal swelling. In spite of the advances made in terms of pathophysiology, underlying mechanisms are not fully clear and this, in turn, hinders the development of effective therapies. Currently, on demand treatment is considered first-class, with few cost-effective, long-term prophylactic options.
Here we describe the case of a 34-year-old man diagnosed with hereditary angioedema at the age of 10, who used to suffer several angioedema attacks per month. He was given prophylactic treatment with antifibrinolytic agents and androgens without improvement. Moreover, he was treated with plasma-derived C1-INH concentrate or icatibant for on-demand treatment of moderate and severe angioedema attacks. At the age of 33, after suffering sudden vision loss and lower limb paresthesia, he was studied and diagnosed with multiple sclerosis. Teriflunomide was administered at a dosage of 14 mg/day. Angioedema attacks disappeared 40 days after starting treatment.
Thus, we suggest considering the pathophysiologic mechanisms on which teriflunomide could be active and consider this drug carefully as an option for prophylaxis purposes. Yet, its effectiveness on this condition should be further studied.
Underlying mechanisms in hereditary angioedema lack clarity and hence hinder the development of effective therapies.On-demand treatment of hereditary angioedema is considered first class, with few cost-effective, long-term prophylactic options.The mechanisms of action and effectiveness of teriflunomide on hereditary angioedema should be studied further.
遗传性血管性水肿是一种罕见的遗传性疾病，可能危及生命，其特征为皮肤和黏膜下反复肿胀发作。尽管在病理生理学方面取得了进展，但其潜在机制仍不完全清楚，这反过来又阻碍了有效治疗方法的开发。目前，按需治疗被认为是首选，具有成本效益的长期预防选择很少。
在此，我们描述了一名34岁男性的病例，他在10岁时被诊断为遗传性血管性水肿，过去每月会遭受几次血管性水肿发作。他接受了抗纤溶药物和雄激素的预防性治疗，但没有改善。此外，他还接受了血浆源性C1-INH浓缩物或依卡替班治疗，以按需治疗中度和重度血管性水肿发作。33岁时，在突然出现视力丧失和下肢感觉异常后，他接受检查并被诊断为多发性硬化症。给予特立氟胺，剂量为每日14毫克。开始治疗40天后，血管性水肿发作消失。
因此，我们建议考虑特立氟胺可能起作用的病理生理机制，并谨慎考虑将这种药物作为预防用药的选择。然而，其对这种疾病的有效性仍需进一步研究。
遗传性血管性水肿的潜在机制尚不清楚，因此阻碍了有效治疗方法的开发。遗传性血管性水肿的按需治疗被认为是首选，具有成本效益的长期预防选择很少。特立氟胺对遗传性血管性水肿的作用机制和有效性应进一步研究。
