medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2024-432medsovet-8724Research ArticleТРУДНЫЙ ДИАГНОЗDIFFICULT DIAGNOSISСитостеролемия (фитостеролемия): выявление, лечение и прогнозSitosterolemia (phytosterolemia): Diagnosis, treatment and prognosishttps://orcid.org/0000-0002-0058-3803ПшеничниковаИ. И.PshenichnikovaI. I.

Пшеничникова Ирина Игоревна, к.м.н., доцент кафедры педиатрии имени академика Г.Н. Сперанского, РМАНПО; детский кардиолог, ДГКБ имени З.А. Башляевой;

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1; 125373, Москва, ул. Героев Панфиловцев, д. 28

Irina I. Pshenichnikova - Cand. Sci. (Med.), Associate Professor of the Department of Pediatrics named after Academician G.N. Speransky, Russian MACPE; Cardiologist, Bashlyaeva Children’s CCH.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993; 28, Geroyev Panfilovtsev St., Moscow, 125373

Pshenichnikovaii@rmapo.ruhttps://orcid.org/0000-0003-4200-4598ЗахароваИ. Н.ZakharovaI. N.

Захарова Ирина Николаевна - д.м.н., профессор, заведующая кафедрой педиатрии имени академика Г.Н. Сперанского.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1

Irina N. Zakharova - Dr. Sci. (Med.), Professor, Head of the Department of Pediatrics named after Academician G.N. Speransky.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993

zakharova-rmapo@yandex.ruhttps://orcid.org/0000-0001-7902-8281КорчагинаЮ. В.KorchaginaYu. V.

Корчагина Юлия Владиславовна - ординатор кафедры педиатрии имени академика Г.Н. Сперанского.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1

Yulia V. Korchagina - Resident of the Department of Pediatrics named after Academician G.N. Speransky.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993

yuliakoba777@gmail.comhttps://orcid.org/0000-0003-2181-8138ПупыкинаВ. В.PupykinaV. V.

Пупыкина Виктория Викторовна - аспирант кафедры педиатрии имени академика Г.Н. Сперанского.

125993, Москва, ул. Баррикадная, д. 2/1, стр. 1

Viktoria V. Pupykina - Postgraduate Student of the Department of Pediatrics named after Academician G.N. Speransky.

2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993

vika-pupykina@mail.ruОкуловаО. А.OkulovaO. A.

Окулова Ольга Анатольевна, врач – детский кардиолог.

125373, Москва, ул. Героев Панфиловцев, д. 28

Olga A. Okulova - Pediatric Cardiologist.

28, Geroyev Panfilovtsev St., Moscow, 125373

olga_okulova@bk.ruhttps://orcid.org/0000-0001-6182-2508ТележниковаН. Д.TelezhnikovaN. D.

Тележникова Наталья Дмитриевна - врач – детский кардиолог, заведующая отделением кардиологии.

125373, Москва, ул. Героев Панфиловцев, д. 28

Natalia D. Telezhnikova - Head of the Department of Cardiology.

28, Geroyev Panfilovtsev St., Moscow, 125373

https://orcid.org/0000-0002-8249-343XВасильевП. А.VasiluevP. A.

Васильев Петр Андреевич - врач-генетик, научный сотрудник.

115478, Москва, ул. Москворечье, д. 1

Peter A. Vasiluev - Medical Geneticist, Researcher.

1, Moskvorechye St., Moscow, 115478

Vasiluev1993@yandex.ruhttps://orcid.org/0000-0002-8366-2004ИвановаО. Н.IvanovaO. N.

Иванова Ольга Николаевна, к.б.н., научный сотрудник.

115478, Москва, ул. Москворечье, д. 1

Olga N. Ivanova - Cand. Sci. (Biol.), Researcher.

1, Moskvorechye St., Moscow, 115478

https://orcid.org/0000-0001-6664-7577БарановаП. В.BaranovaP. V.

Баранова Полина Владимировна - научный сотрудник.

115478, Москва, ул. Москворечье, д. 1

Polina V. Baranova – Researcher.

1, Moskvorechye St., Moscow, 115478

https://orcid.org/0000-0002-5020-1180ЗахароваЕ. Ю.ZakharovaE. Yu.

Захарова Екатерина Юрьевна - д.м.н., заведующая лабораторией наследственных болезней обмена.

115478, Москва, ул. Москворечье, д. 1

Ekaterina Yu. Zakharova - Dr. Sci. (Med.), Head of the Laboratory of Hereditary Metabolic Diseases.

1, Moskvorechye St., Moscow, 115478

https://orcid.org/0000-0002-1518-6552ЕжовМ. В.EzhovM. V.

Ежов Марат Владиславович - д.м.н., профессор, главный научный сотрудник лаборатории нарушений липидного обмена, Научноисследовательский институт клинической кардиологии имени А.Л. Мясникова.

121552, Москва, ул. Академика Чазова, д. 15а

Marat V. Ezhov - Dr. Sci. (Med.), Professor, Chief Researcher of the Laboratory of Lipid Metabolism Disorders, Myasnikov Research Institute of Clinical Cardiology.

15a, Academician Chazov St., Moscow, 121552

ezhov@mail.ruРоссийская медицинская академия непрерывного профессионального образования; Детская городская клиническая больница имени З.А. БашляевойРоссияRussian Medical Academy of Continuous Professional Education; Bashlyaeva Children’s City Clinical HospitalRussian FederationРоссийская медицинская академия непрерывного профессионального образованияРоссияRussian Medical Academy of Continuous Professional EducationRussian FederationДетская городская клиническая больница имени З.А. БашляевойРоссияBashlyaeva Children’s City Clinical HospitalRussian FederationМедико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationНациональный медицинский исследовательский центр кардиологии имени академика Е.И. ЧазоваРоссияNational Medical Research Center of Cardiology named after Academician E.I. ChazovRussian Federation202428112024019198205Copyright © Пшеничникова И.И., Захарова И.Н., Корчагина Ю.В., Пупыкина В.В., Окулова О.А., Тележникова Н.Д., Васильев П.А., Иванова О.Н., Баранова П.В., Захарова Е.Ю., Ежов М.В., 20242024Пшеничникова И.И., Захарова И.Н., Корчагина Ю.В., Пупыкина В.В., Окулова О.А., Тележникова Н.Д., Васильев П.А., Иванова О.Н., Баранова П.В., Захарова Е.Ю., Ежов М.В.Pshenichnikova I.I., Zakharova I.N., Korchagina Y.V., Pupykina V.V., Okulova O.A., Telezhnikova N.D., Vasiluev P.A., Ivanova O.N., Baranova P.V., Zakharova E.Y., Ezhov M.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/8724

Ситостеролемия (фитостеролемия) представляет собой наследственное нарушение обмена веществ, характеризующееся накоплением растительных стеролов (фитостеролов). Заболевание вызвано генетическими мутациями с потерей функции белков-стеролинов, которые играют важную роль в избирательном выведении растительных стеролов. У больных наблюдается повышение фитостеролов, общего холестерина и холестерина липопротеинов низкой плотности в сыворотке крови, что сопровождается риском раннего развития атеросклероза. При тяжелом течении заболевания уже в младенческом возрасте может формироваться ксантоматоз. У пациентов с ситостеролемией описаны гематологические расстройства в виде макротромбоцитопении, стоматоцитоза, эпизодов гемолиза, которые могут быть единственным проявлением болезни и зачастую трактуются как проявление иммунной тромбоцитопении или первичной гемолитической анемии. Описаны гепатои спленомегалия, острая печеночная недостаточность, артралгии. Из-за сходства клинических фенотипов ситостеролемия может ошибочно диагностироваться как семейная гиперхолестеринемия. В алгоритм дифференциальной диагностики должны быть включены такие заболевания, как дефицит лецитин-холестерин-ацилтрансферазы, болезнь Танжера, церебросухожильный ксантоматоз, семейная дисбеталипопротеинемия, дефицит лизосомной кислой липазы, первичный билиарный цирроз, болезни накопления. В терапии ситостеролемии у детей применяются ингибитор кишечной абсорбции холестерина и фитостеролов – эзетимиб и секвестрант желчных кислот – холестирамин. Описано эффективное применение комбинации данных препаратов. В тяжелых случаях может быть использован метод частичного шунтирования дистального отрезка подвздошной кишки, где преимущественно происходит всасывание холестерина, фитостеролов, а также реабсорбция желчных кислот. Пациентам с выраженным атеросклерозом сосудов и резистентностью к стандартным методам лечения можно рассмотреть возможность афереза ХС ЛНП. В публикации приведено описание собственного клинического наблюдения пациента пяти лет, страдающего ситостеролемией.

Sitosterolemia (phytosterolemia) is an inherited metabolic disorder characterized by the accumulation of plant sterols (phytosterols). The disease is caused by loss-of-function genetic mutations in sterolin proteins, which play an important role in selective excretion of plant sterols. Patients exhibit increased serum levels of phytosterols, total cholesterol and low-density lipoprotein cholesterol, which is accompanied by the risk of pre-mature atherosclerosis. Patients can have severe sitosterolemia when xanthomatosis develops as early as in infancy. Hematological disorders in the form of macrothrombocytopenia, stomatocytosis, episodes of hemolysis are reported in patients with sitosterolemia, which can be the only manifestation of the disease and are often interpreted as a manifestation of immune thrombocytopenia or primary hemolytic anemia. Hepatoand splenomegaly, acute liver failure, arthralgia may also be seen. Due to the similarity of clinical phenotypes, sitosterolemia can be misdiagnosed as familial hypercholesterolemia. It is vitally important to perform differential diagnosis to distinguish it from such diseases as lecithin-cholesterol acyltransferase deficiency, Tangier disease, cerebrotendinous xanthomatosis, familial dysbetalipoproteinemia, lysosomal acid lipase deficiency, primary biliary cirrhosis, storage diseases. The treatment of sitosterolemia in children includes the use of the intestinal cholesterol/phytosterol absorption inhibitor ezetimibe and bile acid sequestrant cholestyramine. The effective use of the combination of these drugs is described. The partial bypass of the distal ileum where the absorption of cholesterol, phytosterols, and reabsorption of bile acids mainly occurs can be used in severe cases. For patients with advanced vascular atherosclerosis and resistance to the standard treatments, LDL-C apheresis could be considered. The article describes our own clinical observation of a five-year-old patient suffering from sitosterolemia.

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