类似家族性地中海热的遗传性血管性水肿II型的误导症状。

IF 1 4区 医学 Q4 RHEUMATOLOGY
Acta reumatologica portuguesa Pub Date : 2020-04-01
Marko Baresic, Boris Karanovic, Desiree Coen Herak, Ana Kozmar, Branimir Anic
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引用次数: 0

摘要

遗传性血管性水肿(HAE)是一种罕见的、使人衰弱并可能危及生命的疾病,其特征是水肿反复发作。随着新疗法的发展和更好的诊断工具的可用性,已经取得了重要进展。然而,这种疾病仍然经常被误诊和治疗不当。家族性地中海热(FMF)是一种自身炎症综合征,包括浆液炎、发热、关节炎和皮肤受累。这两种疾病都会引起剧烈的腹痛,类似于急腹症。我们报告一个病例,三个家庭成员表现出各种症状,可能符合两种疾病的临床表现,但在诊断延误多年后才确诊为HAE II型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Misleading symptoms of hereditary angioedema type II mimicking familial mediterranean fever.

Hereditary angioedema (HAE) is a rare, debilitating and potentially life-threatening disease characterized by recurrent attacks of oedema. With the development of new therapies and better availability of diagnostic tools, important advances have been made. However, the disease still remains frequently misdiagnosed and inadequately treated. Familial Mediterranean fever (FMF) is an autoinflammatory syndrome comprised of serositis, fever, arthritis and skin involvement. Both diseases can cause severe abdominal pain resembling that of acute abdomen. We report a case of three family members that presented with various symptoms that could fit in a clinical picture of both diseases, only to confirm a diagnosis of HAE type II after a diagnostic delay of many years.

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来源期刊
Acta reumatologica portuguesa
Acta reumatologica portuguesa 医学-风湿病学
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Acta Reumatólogica Portuguesa is a scientific peer reviewed journal covering all aspects of rheumatic diseases and related to Rheumatology. The journal publishes original articles, reviews, clinical cases, images in rheumatology, letters to the editor and clinical teaching (e.g. guidelines and clinical protocols). Published since 1973, Acta Reumatológica Portuguesa is the official scientific publication of the Portuguese Society of Rheumatology, a non-profit organization that promotes the knowledge and investigation of rheumatic diseases and the development of Rheumatology.
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