[遗传性血管性水肿1型,Lanadelumab预防性治疗的局限性:关于一个病例]。

Martha Lizeth Fonseca-Becerra, Juan Sebastián Betancur-Castro, Leidy Camila Perilla-García
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引用次数: 0

摘要

背景:遗传性血管性水肿是一种常染色体显性遗传病,由C1抑制剂功能缺乏或降低引起。这是一种罕见病,发病率低。治疗的重点是缓解症状和短期和长期预防急性发作。病例报告:男,53岁,20岁起面部、足部、阴囊反复水肿,伴有腹痛。患者有一级直系亲属遗传性血管性水肿史。实验室检查显示血浆蛋白(抗原性)、功能C1-INH和C4水平低。病人接受了几次治疗。鉴于症状复发,建议使用Lanadelumab进行预防性治疗。然而,患者在应用部位出现红斑和硬结,随后继发全身性瘙痒。因此,暂停了预防措施。结论:本例遗传性1型血管性水肿患者在尝试各种治疗方法后出现治疗困难和复发的情况,以及Lanadelumab预防性用药出现不良反应的发现,在国际医学文献中文献记载较少。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Hereditary angioedema type 1, limitations for prophylactic therapy with Lanadelumab: Regarding a case].

Background: Hereditary Angioedema is an autosomal dominant disorder caused by a lack or decrease in the function of the C1 inhibitor. It is a rare disease with low prevalence. Treatment focuses on symptom relief and short- and long-term prevention of acute attacks.

Case report: 53-year-old male patient, with recurrent edema in the face, feet, scrotum, associated with abdominal pain since he was 20 years old. Patient has a history of hereditary angioedema in first-degree relatives of consanguinity. Laboratory tests showed low levels of plasma protein (antigenic), functional C1-INH and C4. The patient received several medical treatments. Given the recurrence of symptoms, prophylactic management with Lanadelumab was indicated. However, the patient presented erythema and induration at the application site with subsequent secondary generalized pruritus. For this reason, prophylaxis was suspended.

Conclusion: This case of hereditary angioedema type 1 presents the difficulty in the treatment and the relapse of the patient after trying various therapies, as well as the finding of the adverse effect presented to the prophylactic medication with Lanadelumab, which has been poorly documented in the literature medical worldwide.

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