aterosklerozАтеросклерозAteroscleroz2078-256X2949-3633НИИТПМ-филиал ИЦиГ СО РАН10.52727/2078-256X-2022-18-1-76-80ateroskleroz-632Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESМолекулярно-генетическая диагностика гетерозиготной формы семейной гиперхолестеринемии в молодом возрасте: клинический случайMolecular genetic diagnosis of a heterozygous form of familial hypercholesterolemia at a young age: a clinical casehttps://orcid.org/0000-0002-6584-2060ТимощенкоО. В.TimoshchenkoО. V.

Ольга Владимировна Тимощенко, младший научный сотрудник лаборатории молекулярно-генетических исследований терапевтических заболеваний, врач-кардиолог

630090, г. Новосибирск, просп. Академика Лаврентьева, 10

630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Olga V. Timoshchenko, junior researcher, laboratory of molecular genetic studies of therapeutic diseases, cardiologist

630090, Novosibirsk, Akademik Lavrentiev av., 10

630089, Novosibirsk, Boris Bogatkov str., 175/1

lentis@yandex.ruhttps://orcid.org/0000-0002-0403-545XИванощукД. Е.IvanoshchukD. E.

Динара Евгеньевна Иванощук, младший научный сотрудник лаборатории молекулярной генетики человека; научный сотрудник лаборатории молекулярно-генетических исследований терапевтических заболеваний

630090, г. Новосибирск, просп. Академика Лаврентьева, 10

630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Dinara E. Ivanoshchuk, junior researcher in the laboratory of human molecular genetics; researcher in the laboratory of molecular genetic investigations of therapeutic diseases

630090, Novosibirsk, Akademik Lavrentiev av., 10

630089, Novosibirsk, Boris Bogatkov str., 175/1

dinara2084@mail.ruhttps://orcid.org/0000-0003-3999-8501СемаевС. Е.SemaevS. E.

Сергей Евгеньевич Семаев, научный сотрудник лаборатории молекулярно-генетических исследований терапевтических заболеваний

630090, г. Новосибирск, просп. Академика Лаврентьева, 10

630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Sergey E. Semaev, researcher laboratory of molecular genetic studies of therapeutic diseases

630090, Novosibirsk, Akademik Lavrentiev av., 10

630089, Novosibirsk, Boris Bogatkov str., 175/1

sse85@ngs.ruhttps://orcid.org/0000-0003-1913-5231ЛатынцеваЛ. Д.LatyntsevaL. D.

Людмила Дмитриевна Латынцева, канд. мед. наук, зав. терапевтическим отделением, старший научный сотрудник лаборатории неотложной кардиологии

630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Lyudmila D. Latyntseva, Ph.D. honey. sciences, head. department of internal medicine, senior researcher, laboratory of emergency cardiology

630089, Novosibirsk, Boris Bogatkov str., 175/1

ludmilanov2010@mail.ruhttps://orcid.org/0000-0001-6108-1025ШахтшнейдерЕ. В.ShakhtshneiderE. V.

Елена Владимировна Шахтшнейдер, канд. мед. наук, руководитель сектора изучения моногенных форм распространенных заболеваний человека; зам. руководителя филиала по научной работе

630090, г. Новосибирск, просп. Академика Лаврентьева, 10

630089, г. Новосибирск, ул. Бориса Богаткова, 175/1

Elena V. Shakhtshneider, PhD, MD, head of the laboratory monogenic form of common diseases

630090, Novosibirsk, Akademik Lavrentiev av., 10

630089, Novosibirsk, Boris Bogatkov str., 175/1

2117409@mail.ruФедеральное государственное бюджетное научное учреждение «Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук»; Научно-исследовательский институт терапии и профилактической медицины – филиал Федерального государственного бюджетного научного учреждения «Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук»РоссияFederal State Budgetary Institution of Science Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Research Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of SciencesRussian FederationНаучно-исследовательский институт терапии и профилактической медицины – филиал Федерального государственного бюджетного научного учреждения «Федеральный исследовательский центр Институт цитологии и генетики Сибирского отделения Российской академии наук»РоссияResearch Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of SciencesRussian Federation2022010420221817680Copyright © Тимощенко О.В., Иванощук Д.Е., Семаев С.Е., Латынцева Л.Д., Шахтшнейдер Е.В., 20222022Тимощенко О.В., Иванощук Д.Е., Семаев С.Е., Латынцева Л.Д., Шахтшнейдер Е.В.Timoshchenko О.V., Ivanoshchuk D.E., Semaev S.E., Latyntseva L.D., Shakhtshneider E.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://ateroskleroz.elpub.ru/jour/article/view/632

Пациенты с семейной гиперхолестеринемией должны находиться под наблюдением в течение всей жизни, начиная с раннего возраста, поскольку высокий уровень холестерина липопротеинов низкой плотности с рождения и его кумулятивный эффект играют существенную роль в раннем развитии осложнений атеросклеротического процесса. Описан клинический случай семейной гетерозиготной гиперхолестеринемии, впервые диагностированной у пациентки в 16 лет. В рамках проведения каскадного скрининга были обследованы родители пациентки. При молекулярно-генетическом исследовании ДНК выявлена замена rs879254721 NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) в гене LDLR у пробанда и у матери пробанда в гетерозиготном варианте. Независимо от возможности проведения молекулярно-генетического исследования все семьи с семейной гиперхолестеринемией требуют постоянного наблюдения в течение жизни и целенаправленного клинического обследования.

Patients with familial hypercholesterolemia should be monitored throughout life, starting at an early age, since high levels of low-density lipoprotein cholesterol from birth and its cumulative effect play a significant role in the early development of complications of the atherosclerotic process. A clinical case of familial heterozygous hypercholesterolemia, first diagnosed in a patient at the age of 16, is described. As part of the cascade screening, the patient’s parents were examined. A molecular genetic study of DNA revealed the substitution rs879254721 NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) in the LDLR gene in the proband and in the proband’s mother in the heterozygous variant. Regardless of the availability of molecular genetic testing, all families with familial hypercholesterolemia require ongoing lifelong follow-up and focused clinical evaluation.

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