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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medsovet</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинский Совет</journal-title><trans-title-group xml:lang="en"><trans-title>Meditsinskiy sovet = Medical Council</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2079-701X</issn><issn pub-type="epub">2658-5790</issn><publisher><publisher-name>REMEDIUM GROUP Ltd.</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.21518/2079-701X-2021-17-294-299</article-id><article-id custom-type="elpub" pub-id-type="custom">medsovet-6513</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ТРУДНЫЙ ДИАГНОЗ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>DIFFICULT DIAGNOSIS</subject></subj-group></article-categories><title-group><article-title>Гиперхолестеринемия у детей и подростков: фокус на семейный вариант</article-title><trans-title-group xml:lang="en"><trans-title>Hypercholesterolemia in children and adolescents: focus on the familial variant</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4200-4598</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Захарова</surname><given-names>И. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Zakharova</surname><given-names>I. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Захарова Ирина Николаевна - доктор медицинских наук, профессор, заслуженный врач Российской Федерации, заведующая кафедрой педиатрии имени академика Г.Н. Сперанского.</p><p>125993, Москва, ул. Баррикадная, д. 2/1, стр. 1</p></bio><bio xml:lang="en"><p>Irina N. Zakharova, Dr. Sci. (Med.), Professor, Honored Doctor of the Russian Federation, Head of the Department of Pediatrics named after G.N. Speransky.</p><p>2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993</p></bio><email xlink:type="simple">Zakharova-rmapo@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3181-9601</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Османов</surname><given-names>И. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Osmanov</surname><given-names>I. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Османов Исмаил Магомедтагирович - доктор медицинских наук, профессор кафедры госпитальной педиатрии имени академика В.А. Таболина, РНИМУ имени Н.И. Пирогова; главный врач, Детская городская КБ имени З.А. Башляевой.</p><p>117997, Москва, ул. Островитянова, д. 1; 125373, Москва, ул. Героев Панфиловцев, д. 28</p></bio><bio xml:lang="en"><p>Ismail M. Osmanov, Dr. Sci. (Med.), Professor of the Department of Hospital Pediatrics named after Academician V.A. Tabolin, Pirogov RNRMU; Chief Physician, Bashlyaeva CCCH.</p><p>1, Ostrovityanov St., Moscow, 117997; 28, Geroev Panfilovtsev St., Moscow, 125373</p></bio><email xlink:type="simple">osmanovim@zdrav.mos.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0058-3803</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пшеничникова</surname><given-names>И. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Pshenichnikova</surname><given-names>I. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Пшеничникова Ирина Игоревна - кандидат медицинских наук, ассистент кафедры педиатрии имени академика Г.Н. Сперанского.</p><p>125993, Москва, ул. Баррикадная, д. 2/1, стр. 1</p></bio><bio xml:lang="en"><p>Irina I. Pshenichnikova, Cand. Sci. (Med.), Assistant Professor of the Department of Pediatrics named after Academician G.N. Speransky.</p><p>2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993</p></bio><email xlink:type="simple">bassarida@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5249-1452</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Творогова</surname><given-names>Т. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Tvorogova</surname><given-names>T. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Творогова Татьяна Михайловна, кандидат медицинских наук, доцент кафедры педиатрии имени академика Г.Н. Сперанского.</p><p>125993, Москва, ул. Баррикадная, д. 2/1, стр. 1</p></bio><bio xml:lang="en"><p>Tatiana M. Tvorogova, Cand. Sci. (Med.), Associate Professor of the Department of Pediatrics named after Academician G.N. Speransky.</p><p>2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993</p></bio><email xlink:type="simple">tvort@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0090-6980</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Холодова</surname><given-names>И. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Kholodova</surname><given-names>I. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Холодова Ирина Николаевна, доктор медицинских наук, профессор кафедры педиатрии имени академика Г.Н. Сперанского.</p><p>125993, Москва, ул. Баррикадная, д. 2/1, стр. 1</p></bio><bio xml:lang="en"><p>Irina N. Kholodova, Dr. Sci. (Med.), Professor of Pediatrics named after G.N. Speransky.</p><p>2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993</p></bio><email xlink:type="simple">chin5@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5684-7575</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бережная</surname><given-names>И. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Berezhnaya</surname><given-names>I. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бережная Ирина Владимировна - кандидат медицинских наук, доцент кафедры педиатрии имени академика Г.Н. Сперанского.</p><p>125993, Москва, ул. Баррикадная, д. 2/1, стр. 1</p></bio><bio xml:lang="en"><p>Irina V. Berezhnaya, Cand. Sci. (Med.), Associate Professor of the Department of Pediatrics named after Academician G.N. Speransky.</p><p>2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993</p></bio><email xlink:type="simple">berezhnaya-irina26@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Скоробогатова</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Skorobogatova</surname><given-names>E. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Скоробогатова Екатерина Владимировна - кандидат медицинских наук, заведующая отделением педиатрии № 2.</p><p>125373, Москва, ул. Героев Панфиловцев, д. 28</p></bio><bio xml:lang="en"><p>Ekaterina V. Skorobogatova, Cand. Sci. (Med.), Head of the Department of Pediatrics No. 2.</p><p>28, Geroev Panfilovtsev St., Moscow, 125373</p></bio><email xlink:type="simple">katrinscor@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Холодов</surname><given-names>Д. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Kholodov</surname><given-names>D. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Холодов Дмитрий Игоревич - врач-педиатр, исполняющий обязанности заведующего филиалом №3.</p><p>125362, Москва, ул. Вишневая, д. 20, корп. 2</p></bio><bio xml:lang="en"><p>Dmitri I. Kholodov, Pediatrician, Acting Head of Branch No. 3.</p><p>20, Bldg. 2, Vishnevaya St., Moscow, 125362</p></bio><email xlink:type="simple">dgp94-f3@zdrav.mos.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1133-9141</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бочарова</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Bocharova</surname><given-names>T. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бочарова Татьяна Ивановна, врач - педиатр-гастроэнтеролог отделения педиатрии с сочетанной патологией.</p><p>125373, Москва, ул. Героев Панфиловцев, д. 28</p></bio><bio xml:lang="en"><p>Tatyana I. Bocharova, Pediatrician-Gastroenterologist of the Department of Pediatrics with Combined Pathology.</p><p>28, Geroev Panfilovtsev St., Moscow, 125373</p></bio><email xlink:type="simple">dr.bocharova@yandex.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Коба</surname><given-names>Ю. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Koba</surname><given-names>Yu. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Коба Юлия Владиславовна - ординатор кафедры педиатрии имени академика Г.Н. Сперанского.</p><p>125993, Москва, ул. Баррикадная, д. 2/1, стр. 1</p></bio><bio xml:lang="en"><p>Yuliya V. Koba, Resident of the Department of Pediatrics named after Academician G.N. Speransky.</p><p>2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993</p></bio><email xlink:type="simple">yuliakoba777@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Российская медицинская академия непрерывного профессионального образования</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Russian Medical Academy of Continuous Professional Education</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Российский национальный исследовательский медицинский университет имени Н.И. Пирогова; Детская городская клиническая больница имени З.А. Башляевой</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Pirogov Russian National Research Medical University; Bashlyaeva City Children’s Clinical Hospital</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Детская городская клиническая больница имени З.А. Башляевой</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Bashlyaeva City Children’s Clinical Hospital</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Детская городская поликлиника № 94</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Children’s City Clinic No. 94</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2021</year></pub-date><pub-date pub-type="epub"><day>01</day><month>11</month><year>2021</year></pub-date><volume>0</volume><issue>17</issue><fpage>294</fpage><lpage>299</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Захарова И.Н., Османов И.М., Пшеничникова И.И., Творогова Т.М., Холодова И.Н., Бережная И.В., Скоробогатова Е.В., Холодов Д.И., Бочарова Т.А., Коба Ю.В., 2021</copyright-statement><copyright-year>2021</copyright-year><copyright-holder xml:lang="ru">Захарова И.Н., Османов И.М., Пшеничникова И.И., Творогова Т.М., Холодова И.Н., Бережная И.В., Скоробогатова Е.В., Холодов Д.И., Бочарова Т.А., Коба Ю.В.</copyright-holder><copyright-holder xml:lang="en">Zakharova I.N., Osmanov I.M., Pshenichnikova I.I., Tvorogova T.M., Kholodova I.N., Berezhnaya I.V., Skorobogatova E.V., Kholodov D.I., Bocharova T.I., Koba Y.V.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.med-sovet.pro/jour/article/view/6513">https://www.med-sovet.pro/jour/article/view/6513</self-uri><abstract><p>Семейная гиперхолестеринемия характеризуется существенным повышением концентрации холестерина липопротеинов низкой плотности в сыворотке крови, что даже в отсутствие других факторов риска ведет к развитию атеросклеротического поражения сосудов начиная с детского возраста. При значительной распространенности в популяции семейная гиперхолестеринемия редко диагностируется своевременно ввиду длительного отсутствия клинических проявлений. Актуальной на сегодняшний день задачей являются разработка и внедрение программ первичного выявления семейной гиперхолестеринемии у детей и подростков. Раннее выявление больных с семейной гиперхолестеринемией и своевременное начало адекватной липидснижающей терапии будут сдерживать темпы прогрессирования атеросклероза, что значительно снизит инвалидизацию и смертность от сердечно-сосудистых заболеваний в старших возрастных группах. Существуют четыре разновидности скрининга: каскадный, таргетный (прицельный), оппортунистический и универсальный. Каскадный скрининг на сегодняшний день считается наиболее эффективным и экономически выгодным способом выявления новых пациентов с семейной гиперхолестеринемией среди родственников индексного пациента - больного с установленным диагнозом. Таргетный скрининг основан на поиске лиц, страдающих семейной гиперхолестеринемией, среди групп пациентов с ранним развитием атеросклеротического поражения сосудов, например, в кардиологических или неврологических стационарах. Оппортунистический скрининг представляет собой несистематизированное, спорадическое определение уровня холестерина у пациентов, обратившихся за медицинской помощью по любым причинам. Способ наиболее применим в учреждениях здравоохранения первичного звена. Универсальный скрининг представляет собой массовое обследование определенных возрастных групп и является высокоэффективным способом ранней диагностики, особенно в сочетании с проведением обратного каскадного скрининга родителей, сиблингов и других родственников индексного пациента. Реализация программ раннего, в детском возрасте, выявления семейной гиперхолестеринемией, налаживание систем адекватной маршрутизации пациентов, своевременное назначение эффективной липидснижающей терапии будут способствовать сохранению здоровья и продлению трудоспособного возраста, развитию и сохранению трудового потенциала страны.</p></abstract><trans-abstract xml:lang="en"><p>Familial hypercholesterolemia is characterized by a significant increase in serum low-density lipoprotein cholesterol concentration, which even in the absence of other risk factors leads to the development of atherosclerotic vascular lesions beginning in childhood. With significant prevalence in the population, familial hypercholesterolemia is rarely diagnosed in time due to the Long absence of clinical manifestations. Today the urgent task is to develop and implement programs of primary detection of familial hypercholesterolemia in children and adolescents. Early detection of patients with familial hypercholesterolemia and timely initiation of adequate lipid-lowering therapy will curb the rate of atherosclerosis progression, which will significantly reduce disability and mortality from cardiovascular diseases in older age groups. There are four types of screening: cascade, targeted, opportunistic and universal. Cascade screening is currently considered the most effective and cost-effective way to identify new patients with familial hypercholesterolemia among relatives of an index patient, the patient with the established diagnosis. Targeted screening is based on searching for individuals with familial hypercholesterolemia among groups of patients with the early development of atherosclerotic vascular lesions, for example, in cardiology or neurology hospitals. Opportunistic screening is a non-systematic, sporadic determination of cholesterol levels in patients seeking medical care for any reason. It is most applicable in primary care health care settings. Universal screening is a mass screening of certain age groups and is a highly effective way of early diagnosis, especially in combination with reverse cascade screening of parents, siblings, and other relatives of the index patient. Implementation of programs of early childhood detection of familial hypercholesterolemia, setting up systems of adequate routing of patients, timely prescription of effective lipid-lowering therapy will contribute to health preservation and prolongation of working age, development, and preservation of labor potential of the country.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>гиперхолестеринемия</kwd><kwd>каскадный скрининг</kwd><kwd>универсальный скрининг</kwd><kwd>таргетный скрининг</kwd><kwd>оппортунистический скрининг</kwd><kwd>липидный центр</kwd></kwd-group><kwd-group xml:lang="en"><kwd>hypercholesterolemia</kwd><kwd>cascade screening</kwd><kwd>universal screening</kwd><kwd>targeted screening</kwd><kwd>opportunistic screening</kwd><kwd>lipid center</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Иванова О.Н., Васильев П.А., Захарова Е.Ю. 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