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基层医疗中遗传性血管性水肿患者的诊断与筛查

Diagnosis and screening of patients with hereditary angioedema in primary care.

作者信息

Henao Maria Paula, Kraschnewski Jennifer L, Kelbel Theodore, Craig Timothy J

机构信息

Department of Medicine, Pennsylvania State University College of Medicine at Hershey Medical Center, Hershey, PA, USA.

Division of Allergy and Immunology, Pennsylvania State University College of Medicine at Hershey Medical Center, Hershey, PA, USA.

出版信息

Ther Clin Risk Manag. 2016 May 2;12:701-11. doi: 10.2147/TCRM.S86293. eCollection 2016.

Abstract

Hereditary angioedema (HAE) is a rare autosomal dominant disease that commonly manifests with episodes of cutaneous or submucosal angioedema and intense abdominal pain. The condition usually presents due to a deficiency of C1 esterase inhibitor (C1-INH) that leads to the overproduction of bradykinin, causing an abrupt increase in vascular permeability. A less-understood and less-common form of the disease presents with normal C1-INH levels. Symptoms of angioedema may be confused initially with mast cell-mediated angioedema, such as allergic reactions, and may perplex physicians when epinephrine, antihistamine, or glucocorticoid therapies do not provide relief. Similarly, abdominal attacks may lead to unnecessary surgeries or opiate dependence. All affected individuals are at risk for a life-threatening episode of laryngeal angioedema, which continues to be a source of fatalities due to asphyxiation. Unfortunately, the diagnosis is delayed on average by almost a decade due to a misunderstanding of symptoms and general lack of awareness of the disease. Once physicians suspect HAE, however, diagnostic methods are reliable and available at most laboratories, and include testing for C4, C1-INH protein, and C1-INH functional levels. In patients with HAE, management consists of acute treatment of an attack as well as possible short- or long-term prophylaxis. Plasma-derived C1-INH, ecallantide, icatibant, and recombinant human C1-INH are new treatments that have been shown to be safe and effective in the treatment of HAE attacks. The current understanding of HAE has greatly improved in recent decades, leading to growing awareness, new treatments, improved management strategies, and better outcomes for patients.

摘要

遗传性血管性水肿(HAE)是一种罕见的常染色体显性疾病,通常表现为皮肤或黏膜下血管性水肿发作以及剧烈腹痛。该病通常是由于C1酯酶抑制剂(C1-INH)缺乏导致缓激肽过度产生,从而引起血管通透性突然增加所致。还有一种较少被理解且较不常见的疾病形式,其C1-INH水平正常。血管性水肿的症状最初可能与肥大细胞介导的血管性水肿(如过敏反应)相混淆,当肾上腺素、抗组胺药或糖皮质激素治疗无效时,可能会使医生感到困惑。同样,腹部发作可能导致不必要的手术或阿片类药物依赖。所有受影响的个体都有发生危及生命的喉血管性水肿发作的风险,这仍然是窒息致死的一个原因。不幸的是,由于对症状的误解和对该疾病普遍缺乏认识,诊断平均延迟近十年。然而,一旦医生怀疑是HAE,大多数实验室都有可靠的诊断方法,包括检测C4、C1-INH蛋白和C1-INH功能水平。对于HAE患者,治疗包括发作时的急性治疗以及可能的短期或长期预防。血浆源性C1-INH、依库珠单抗、艾替班特和重组人C1-INH是已被证明在治疗HAE发作时安全有效的新疗法。近几十年来,对HAE的当前认识有了很大提高,从而提高了认识、出现了新的治疗方法、改进了管理策略,并为患者带来了更好的治疗效果。

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