Hereditary Angioedema With Normal C1 Inhibitor: A Quarter Century of Forward Progress and Persisting Obstacles

IF 8.2 1区医学 Q1 ALLERGY

Journal of Allergy and Clinical Immunology-In Practice Pub Date : 2025-06-01 DOI:10.1016/j.jaip.2025.02.036

Sandra C. Christiansen MD , Aleena Banerji MD , Jonathan A. Bernstein MD , Paula J. Busse MD , Timothy Craig DO , H. Henry Li MD, PhD , Mark Davis-Lorton MD , William R. Lumry MD , Marc A. Riedl MD, MS , Bruce L. Zuraw MD

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引用次数: 0

Abstract

Hereditary angioedema with normal C1 inhibitor (HAE-nl-C1INH) was initially described almost a quarter century ago. Considerable progress toward unraveling the mysteries of this complex disease has been made during the intervening years. The ability to diagnose, classify, and treat HAE-nl-C1INH, however, continues to present daunting clinical challenges. In this article we have attempted to summarize current areas of scientific consensus and provide some insights to assist physicians caring for affected individuals. Coherently describing the field of HAE-nl-C1INH in many ways embodies a precarious balance between assertions anchored by data versus conjecture. In this Rostrum we have tried to encapsulate the numerous scientific developments over the past 25 years into a proposed classification schema intended to facilitate decisions when evaluating patients with recurrent angioedema. Founded on an accurate diagnosis in conjunction with an appreciation of the underlying pathomechanism, targeted patient treatment strategies can be appropriately designed. It is hoped that this approach will lay the groundwork for future advances in our understanding of HAE-nl-C1INH while bringing patients ever closer to the goal of leading a normal life.

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C1抑制剂正常的遗传性血管性水肿：四分之一世纪的进步与持续障碍。

具有正常C1抑制剂（HAE-nl-C1INH）的遗传性血管性水肿最初是在近25年前被描述的。在此期间，在解开这一复杂疾病的奥秘方面取得了相当大的进展。然而，诊断、分类和治疗HAE-nl-C1INH的能力仍然面临着严峻的临床挑战。在接下来的文章中，我们试图总结当前的科学共识领域，并提供一些设想的见解，以帮助医生照顾受影响的个人。在许多方面连贯地描述HAE-nl-C1INH领域体现了基于数据的断言与猜想之间的不稳定平衡。在这个讲台上，我们试图将过去25年来的众多科学发展概括为一个拟议的分类方案，旨在促进评估复发性血管性水肿患者时的决策。在准确诊断的基础上，结合对潜在病理机制的认识，可以适当地设计有针对性的患者治疗策略。希望这种方法将为我们对HAE-nl-C1INH的未来理解奠定基础，同时使患者更接近过上正常生活的目标。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Allergy and Clinical Immunology-In Practice ALLERGYIMMUNOLOGY-IMMUNOLOGY

CiteScore

11.10

自引率

9.60%

发文量

683

审稿时长

50 days

期刊介绍： JACI: In Practice is an official publication of the American Academy of Allergy, Asthma & Immunology (AAAAI). It is a companion title to The Journal of Allergy and Clinical Immunology, and it aims to provide timely clinical papers, case reports, and management recommendations to clinical allergists and other physicians dealing with allergic and immunologic diseases in their practice. The mission of JACI: In Practice is to offer valid and impactful information that supports evidence-based clinical decisions in the diagnosis and management of asthma, allergies, immunologic conditions, and related diseases. This journal publishes articles on various conditions treated by allergist-immunologists, including food allergy, respiratory disorders (such as asthma, rhinitis, nasal polyps, sinusitis, cough, ABPA, and hypersensitivity pneumonitis), drug allergy, insect sting allergy, anaphylaxis, dermatologic disorders (such as atopic dermatitis, contact dermatitis, urticaria, angioedema, and HAE), immunodeficiency, autoinflammatory syndromes, eosinophilic disorders, and mast cell disorders. The focus of the journal is on providing cutting-edge clinical information that practitioners can use in their everyday practice or to acquire new knowledge and skills for the benefit of their patients. However, mechanistic or translational studies without immediate or near future clinical relevance, as well as animal studies, are not within the scope of the journal.