gastro-jРоссийский журнал гастроэнтерологии, гепатологии, колопроктологииRussian Journal of Gastroenterology, Hepatology, Coloproctology1382-43762658-6673«Gastro» LLC10.22416/1382-4376-2016-26-3-41-51gastro-j-59Research ArticleГЕПАТОЛОГИЯHEPATOLOGYРедкие формы неалкогольной жировой болезни печени: наследственный дефицит лизосомной кислой липазыRare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiencyМаевскаяМ. В.MayevskayaM. V.noemail@neicon.ruИвашкинВ. Т.IvashkinV. T.noemail@neicon.ruЖарковаМ. С.ZharkovaM. S.zharkovamaria@mail.ruНекрасоваТ. П.NekrasovaT. P.noemail@neicon.ruАюшеваГ. И.AyushevaG. I.noemail@neicon.ruМасленниковР. В.MaslennikovR. V.noemail@neicon.ruГБОУ ВПО «Первый Московский государственный медицинский университет им. И.М. Сеченова»РоссияState educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»Russian Federation2016120820162634151Copyright © Маевская М.В., Ивашкин В.Т., Жаркова М.С., Некрасова Т.П., Аюшева Г.И., Масленников Р.В., 20162016Маевская М.В., Ивашкин В.Т., Жаркова М.С., Некрасова Т.П., Аюшева Г.И., Масленников Р.В.Mayevskaya M.V., Ivashkin V.T., Zharkova M.S., Nekrasova T.P., Ayusheva G.I., Maslennikov R.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.gastro-j.ru/jour/article/view/59

Цель обзора. Ознакомить практикующих врачей с редко диагностируемым заболеванием - наследственным дефицитом лизосомной кислой липазы (ДЛКЛ), которое может протекать под «маской» такого распространенного заболевания, как неалкогольная жировая болезнь печени (НАЖБП). Основные положения. ДЛКЛ может манифестировать в двух формах: в виде скоротечной смертоносной болезни Вольмана и медленно прогрессирующей болезни накопления эфиров холестерина (БНЭХС). Данный обзор посвящен более клинически значимой для терапевтов и гастроэнтерологов форме ДЛКЛ - БНЭХС которую часто ошибочно принимают за НАЖБП, однако эти заболевания имеют различные этиологию, патогенез, патоморфологию, особенности клинического течения. В обзоре приведены критерии клинического и патоморфологического дифференциального диагноза ДЛКЛ и НАЖБП, описаны современные методы подтверждения диагноза ДЛКЛ и перспективы его терапии. Заключение. Своевременное выявление больных с ДЛКЛ и адекватная терапия могут предотвратить развитие ассоциированного с этим заболеванием цирроза печени, а также сердечно-сосудистых осложнений.

Aim of review. To acquaint general practitioners with a rarely diagnosed disease - the hereditary deficiency of lysosomal acid lipase (DLAL) which can develop under the «mask» non-alcoholic fatty liver disease (NAFLD). Summary. There are two forms of DLAL clinical manifestations: as fulminant lethal Wolman disease and slowly progressing cholesterol ethers storage disease (CESD). This overview is devoted to more clinically relevant form of DLAL, significant for physicians and gastroenterologists - CESD which is often mistaken for NAFLD, however these diseases have different etiology, pathogenesis, pathomorphology and clinical course. Criteria of the clinical and pathomorphological differential diagnosis of DLAL and NAFLD are presented in the review, modern methods DLAL diagnosis confirmation and treatment perspectives are presented. Conclusion. Early detection of DLAL patients and adequate treatment can prevent development of the liver cirrhosis associated to this disease, as well as cardio-vascular complications.

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