bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.35754/0234-5730-2024-69-2-247-259bloodjour-552Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCASE REPORTSТромбофилия как причина развития ишемического инсульта в молодом возрасте. Особенности клинических проявлений и диагностикаThrombophilia as a reason for the development of ischemic stroke at young age. Features of the clinic and diagnosishttps://orcid.org/0000-0001-5261-5849СавчукЕ. А.SavchukE. A.

Савчук Елена Александровна, кандидат медицинских наук, доцент кафедры неврологии

295051, г. Симферополь, Республика Крым

Elena A. Savchuk, Cand. Sci. (Med.), Associate Professor of the Department of Nervous Diseases and Neurosurgery

295051, Simferopol, Republic of Crimea

elena_savchuk12@mail.ruhttps://orcid.org/0009-0003-6073-5682МельниченкоС. А.MelnichenkoS. A.

Мельниченко Софья Александровна, невролог

295017, г. Симферополь, Республика Крым

Sofia A. Melnichenko, neurologist

295017, Simferopol, Republic of Crimea

csrl@list.ruhttps://orcid.org/0009-0006-9673-8641КуртаджиеваА. В.KurtadzhievaA. V.

Куртаджиева Анастасия Викторовна, невролог

295024, г. Симферополь, Республика Крым

Anastasia V. Kurtadzhieva, neurologist

295024, Simferopol, Republic of Crimea

nastyavorobei@mail.ruhttps://orcid.org/0000-0003-4519-7575СавчукЕ. О.SavchukE. O.

Савчук Елена Олеговна, ассистент кафедры неврологии

295051, г. Симферополь, Республика Крым

Elena O. Savchuk, assistant of the Department of Nervous Diseases and Neurosurgery

295051, Simferopol, Republic of Crimea

e.o.savhuk@mail.ruhttps://orcid.org/0000-0001-5920-8664МаксимоваП. Е.MaksimovaP. E.

Максимова Полина Евгеньевна, ординатор по специальности «гематология»

197022, г. Санкт-Петербург

Рolina E. Maksimova, resident doctor in the specialty “Hematology”

197022, St. Petersburg

pmaksq@mail.ruhttps://orcid.org/0000-0001-8216-4196ЗяблицкаяЕ. Ю.ZyablitskayaE. Yu.

Зяблицкая Евгения Юрьевна, доктор медицинских наук, профессор кафедры нормальной анатомии

295051, г. Симферополь, Республика Крым

Evgenia Yu. Zyablitskaya, Dr. Sci. (Med.), Leading Researcher, Professor of Normal Anatomy Department

295051, Simferopol, Republic of Crimea

evgu79@mail.ruОрдена Трудового Красного Знамени медицинский институт им. С.И. Георгиевского ФГАОУ ВО «Крымский федеральный университет им. В.И. Вернадского»РоссияMedical Institute named after S.I. Georgievsky of V.I. Vernadsky Crimean Federal UniversityRussian FederationГБУЗ РК «Республиканская клиническая больница им. Н.А. Семашко»РоссияSemashko Republican Clinical HospitalRussian FederationГБУЗ РК «Городская клиническая больница № 7»РоссияCity Clinical Hospital No. 7Russian FederationФГБОУ ВО «Первый Санкт-Петербургский государственный медицинский университет им. академика И.П. Павлова»РоссияPavlov First St. Petersburg State Medical UniversityRussian Federation202419082024692247259Copyright © Савчук Е.А., Мельниченко С.А., Куртаджиева А.В., Савчук Е.О., Максимова П.Е., Зяблицкая Е.Ю., 20242024Савчук Е.А., Мельниченко С.А., Куртаджиева А.В., Савчук Е.О., Максимова П.Е., Зяблицкая Е.Ю.Savchuk E.A., Melnichenko S.A., Kurtadzhieva A.V., Savchuk E.O., Maksimova P.E., Zyablitskaya E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.htjournal.ru/jour/article/view/552Введение

Введение. Тромбофилия является частой причиной развития неврологических осложнений.

Цель

Цель: представить клиническое наблюдение развития ишемического инсульта (ИИ) у больного наследственной тромбофилией.

Основные сведения

Основные сведения. Сообщается о мужчине, у которого в возрасте 30 лет развился ИИ в бассейне левой среднемозговой артерии. Диагностическое исследование позволило установить, что развитию ИИ способствовала тромбофилия, обусловленная сочетанием полиморфных вариантов генов фибриногена (G-455A (G-467A)), метилентетрагидрофолатредуктазы (C677T). Таким образом, наследственная тромбофилия явилась фактором риска развития ИИ у больного в молодом возрасте, поэтому при отсутствии традиционных факторов риска развития ИИ необходимо проведение генетического анализа на тромбофилию.

Introduction

Introduction. Thrombophilia is a common cause of neurological complications.

Aim

Aim. to present a clinical observation of the development of ischemic stroke in a patient with hereditary thrombophilia.

Main findings

Main findings. A case is presented of a man, aged 30, who developed an ischemic stroke in the basin of the left medial artery. A diagnostic study revealed that the development of the ischemic stroke was facilitated by thrombophilia caused by a combination of polymorphic variants of the fibrinogen genes (G-455A(G-467A)) and methylenetetrahydrofolate reductase (C677T). Thus, hereditary thrombophilia was a risk factor for the development of ischemic stroke in the patient at a young age. Therefore, in the absence of traditional risk factors for the development of ischemic stroke, a genetic analysis for thrombophilia is necessary.

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The authors declare that there are no conflicts of interest present.