遗传性血管性水肿的治疗进展:关注当前和未来的选择。

IF 4 3区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL
Kelsey Uminski, Dawn Goodyear, Stephen Betschel
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引用次数: 0

摘要

遗传性血管性水肿(HAE)是一种罕见的遗传性疾病,其特征是不可预测且可能危及生命的肿胀发作,主要是由过度的缓激肽产生引起的。这些发作通常涉及皮肤、胃肠道和上呼吸道,严重影响患者的生活质量。最近在了解HAE的潜在病理生理学方面取得的进展已经改变了临床护理,使得能够开发出高度靶向的治疗方法,从而破坏小钾likrein-激肽通路中的关键步骤。目前的按需治疗迅速缓解急性症状,而当代预防策略大大减少了发作频率,提高了患者的自主性和健康相关的生活质量。新兴疗法——包括新型口服药物、单克隆抗体、RNA疗法和开创性的基因编辑方法——继续发展,旨在简化治疗和进一步个性化护理。这些创新疗法共同努力解决剩余未满足的需求,确保HAE患者获得更广泛的可及性、便利性和长期可持续性护理。这篇叙述性综述强调了HAE治疗选择的进展,总结了目前的进展,并探讨了个性化和以患者为中心的护理的未来策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Therapeutic Advances in Hereditary Angioedema: A Focus on Present and Future Options.

Hereditary angioedema (HAE) is a rare genetic disorder characterized by unpredictable and potentially life-threatening episodes of swelling, driven primarily by excessive bradykinin production. These episodes commonly involve the skin, gastrointestinal tract, and upper airway, significantly impacting patients' quality of life. Recent advances in understanding the underlying pathophysiology of HAE have transformed clinical care, enabling the development of highly targeted treatments that disrupt critical steps within the kallikrein-kinin pathway. Current on-demand therapies rapidly relieve acute symptoms, while contemporary prophylactic strategies have substantially reduced attack frequency and improved patient autonomy and health-related quality of life. Emerging therapies-including novel oral agents, monoclonal antibodies, RNA therapies, and pioneering gene editing approaches-continue to evolve, aiming to simplify treatment and further personalize care. These innovative treatments collectively strive to address remaining unmet needs, ensuring broader accessibility, convenience, and long-term sustainability of care for individuals living with HAE. This narrative review highlights the progression of therapeutic options in HAE, summarizing current advances and exploring future strategies toward personalized and patient-centered care.

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来源期刊
Advances in Therapy
Advances in Therapy 医学-药学
CiteScore
7.20
自引率
2.60%
发文量
353
审稿时长
6-12 weeks
期刊介绍: Advances in Therapy is an international, peer reviewed, rapid-publication (peer review in 2 weeks, published 3–4 weeks from acceptance) journal dedicated to the publication of high-quality clinical (all phases), observational, real-world, and health outcomes research around the discovery, development, and use of therapeutics and interventions (including devices) across all therapeutic areas. Studies relating to diagnostics and diagnosis, pharmacoeconomics, public health, epidemiology, quality of life, and patient care, management, and education are also encouraged. The journal is of interest to a broad audience of healthcare professionals and publishes original research, reviews, communications and letters. The journal is read by a global audience and receives submissions from all over the world. Advances in Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of all scientifically and ethically sound research.
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