Russian Journal of AllergyRussian Journal of AllergyРоссийский Аллергологический Журнал1810-88302686-682XPublishing House ABV Press1705810.36691/RJA17058OBKLOSReviewsНаучные обзорыReview ArticleHereditary angioedema: modern approaches to modeling, diagnostics and therapyНаследственный ангиоотек: современные подходы к моделированию, диагностике и терапииhttps://orcid.org/0009-0001-7678-24891883-8361ParshinaVeronika A.ПаршинаВероника Анатольевна
Russian Federation
parshina.nicka@yandex.ruhttps://orcid.org/0000-0003-3949-85821493-1160KoloskovaOlesya O.КолосковаОлеся Олеговна
Russian Federation

MD, Cand. Sci. (Biology)

канд. биол. наук

oo.koloskova@nrcii.ruhttps://orcid.org/0009-0005-5140-15543046-8033KhodzhavaMaria V.ХоджаваМария Викторовна
Russian Federation

MD, Cand. Sci. (Pharmacy)

канд. фарм. наук

mchernobaeva@mail.ruhttps://orcid.org/0000-0002-1606-205X2063-7973LatyshevaElena A.ЛатышеваЕлена Александровна
Russian Federation

MD, Dr. Sci. (Medicine)

д-р мед. наук

ealat@mail.ruhttps://orcid.org/0000-0001-6444-64997555-5925ShershakovaNadezda N.ШершаковаНадежда Николаевна
Russian Federation

MD, Dr. Sci (Biology)

д-р биол. наук

nn.shershakova@nrcii.ruhttps://orcid.org/0000-0003-4961-96403199-9803KhaitovMusa R.ХаитовМуса Рахимович
Russian Federation

д-р мед. наук, профессор, академик РАН

mr.khaitov@nrcii.ruNational Research Center – Institute of Immunology Federal Medical-Biological AgencyГосударственный научный центр «Институт иммунологии»Center for genetic reprogramming and gene therapy, Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological AgencyЦентр «Генетическое репрограммирование и генная терапия» Федерального научно-клинического центра физико-химической медицины им. академика Ю.М. Лопухина ФМБА РоссииThe Russian National Research Medical University named after N.I. PirogovРоссийский национальный исследовательский медицинский университет имени Н.И. Пирогова15122025251220252243974101509202515122025Copyright ©; 2025, ABV-pressCopyright ©; 2025, ИД "АБВ-пресс"2025ABV-pressИД "АБВ-пресс"https://rusalljournal.ru/raj/userhttps://rusalljournal.ru/raj/article/view/17058

Hereditary angioedema is a rare but potentially life-threatening disease characterized by episodic swelling due to excessive bradykinin production.

This review discusses the main pathogenetic mechanisms of the disease and analyzes the main differences between types of hereditary angioedema with C1-inhibitor deficiency (types I and II) and with normal C1-inhibitor levels. The paper summarizes and systematizes the main biomarkers with diagnostic significance for hereditary angioedema, including the level and functional activity of C1-inhibitor, the concentration of complement system components (C4, C1r, C1s), as well as molecular genetic markers that allow verifying the disease type. Modern therapeutic strategies are presented, focusing both on the rapid relief of acute attacks using drugs that target the kallikrein-kinin system, and on preventive approaches that reduce the frequency, severity, and duration of recurrences. An important part of the review is the analysis of existing in vitro and in vivo models of hereditary angioedema, including cell systems and transgenic animal models used for the preclinical evaluation of the efficacy and safety of new therapeutic agents, as well as for a deeper understanding of the molecular and cellular mechanisms underlying the disease.

The presented analysis highlights the importance of integrating fundamental and applied research to develop personalized approaches for hereditary angioedema management and to improve patient prognosis.

Наследственный ангиоотек — редкая, но потенциально угрожающая жизни патология, характеризующаяся эпизодическими отеками, обусловленными избыточной продукцией брадикинина.

В обзоре описаны основные механизмы патогенеза, а также проанализированы ключевые различия между типами наследственного ангиоотека с дефицитом С1-ингибитора (I и II типы) и его нормальным уровнем. Обобщены и систематизированы основные биомаркеры, имеющие диагностическое значение при наследственном ангиоотеке, включая уровень и функциональную активность С1-ингибитора, концентрацию компонентов системы комплемента (C4, C1r, C1s), а также молекулярно-генетические маркеры, позволяющие определить тип заболевания. Представлены современные терапевтические стратегии, направленные на быстрое купирование острых приступов с использованием препаратов, стабилизирующих калликреин-кининовую систему, а также профилактические подходы, снижающие частоту, тяжесть и продолжительность рецидивов. Важная часть обзора — анализ существующих in vitro и in vivo моделей наследственного ангиоотека, включая клеточные системы и трансгенные животные модели, используемые для доклинической оценки эффективности и безопасности новых терапевтических агентов, углубляющие понимание молекулярных и клеточных механизмов, лежащих в основе заболевания.

Представленные результаты подчеркивают важность интеграции фундаментальных и прикладных исследований для разработки персонализированных подходов к управлению наследственным ангиоотеком и улучшения прогноза для пациентов.

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