Hereditary Angioedema: The Clinical Picture of Excessive Contact Activation.

Autor:	Petersen RS; Department of Vascular Medicine, University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam, the Netherlands., Fijen LM; Department of Vascular Medicine, University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam, the Netherlands., Levi M; Department of Vascular Medicine, University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam, the Netherlands., Cohn DM; Department of Vascular Medicine, University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam, the Netherlands.
Jazyk:	angličtina
Zdroj:	Seminars in thrombosis and hemostasis [Semin Thromb Hemost] 2024 Oct; Vol. 50 (7), pp. 978-988. Date of Electronic Publication: 2022 Nov 23.
DOI:	10.1055/s-0042-1758820
Abstrakt:	Hereditary angioedema is a rare, genetic disorder characterized by painful, debilitating and potentially life-threatening angioedema attacks in subcutaneous and submucosal tissue. While usually unpredictable, attacks can be provoked by a variety of triggers including physical injury and certain medication and are often preceded by prodromal symptoms. Hereditary angioedema has a profound influence on the patients' lives. The fundamental cause of hereditary angioedema in almost all patients is a mutation in the SERPING1 gene leading to a deficiency in C1-inhibitor. Subsequently, the contact activation cascade and kallikrein-kinin pathway are insufficiently inhibited, resulting in excessive bradykinin production triggering vascular leakage. While C1-inhibitor is an important regulator of the intrinsic coagulation pathway, fibrinolytic system and complement cascade, patients do not have an increased risk of coagulopathy, autoimmune conditions or immunodeficiency disorders. Hereditary angioedema is diagnosed based on C1-inhibitor level and function. Genetic analysis is only required in rare cases where hereditary angioedema with normal C1-inhibitor is found. In recent years, new, highly specific therapies have greatly improved disease control and angioedema-related quality of life. This article reviews the clinical picture of hereditary angioedema, the underlying pathophysiology, diagnostic process and currently available as well as investigational therapeutic options. Competing Interests: D.M.C. reports personal fees from Biocryst, personal fees from CSL, personal fees from Ionis pharmaceuticals, personal fees from KalVista, personal fees from Pharvaris, outside the submitted work. (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)
Databáze:	MEDLINE
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