Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency
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...
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| Format: | Article |
| Language: | Russian |
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Gastro LLC
2016-08-01
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| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
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| Online Access: | https://www.gastro-j.ru/jour/article/view/59 |
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| author | M. V. Mayevskaya V. T. Ivashkin M. S. Zharkova T. P. Nekrasova G. I. Ayusheva R. V. Maslennikov |
| author_facet | M. V. Mayevskaya V. T. Ivashkin M. S. Zharkova T. P. Nekrasova G. I. Ayusheva R. V. Maslennikov |
| author_sort | M. V. Mayevskaya |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e62363f039df4e73a7a63d8dbaac180c |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2016-08-01 |
| publisher | Gastro LLC |
| record_format | Article |
| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-e62363f039df4e73a7a63d8dbaac180c2025-02-10T16:14:34ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732016-08-01263415110.22416/1382-4376-2016-26-3-41-5159Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiencyM. V. Mayevskaya0V. T. Ivashkin1M. S. Zharkova2T. P. Nekrasova3G. I. Ayusheva4R. V. Maslennikov5State educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»State educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»State educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»State educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»State educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»State educational government-financed institution of higher professional education «Sechenov First Moscow state medical University»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.https://www.gastro-j.ru/jour/article/view/59неалкогольная жировая болезнь печеницирроз печенинаследственный дефицит лизосомной кислой липазы |
| spellingShingle | M. V. Mayevskaya V. T. Ivashkin M. S. Zharkova T. P. Nekrasova G. I. Ayusheva R. V. Maslennikov Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency Российский журнал гастроэнтерологии, гепатологии, колопроктологии неалкогольная жировая болезнь печени цирроз печени наследственный дефицит лизосомной кислой липазы |
| title | Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency |
| title_full | Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency |
| title_fullStr | Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency |
| title_full_unstemmed | Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency |
| title_short | Rare forms of nonalcoholic fatty liver disease: hereditary lysosomal acid lipase deficiency |
| title_sort | rare forms of nonalcoholic fatty liver disease hereditary lysosomal acid lipase deficiency |
| topic | неалкогольная жировая болезнь печени цирроз печени наследственный дефицит лизосомной кислой липазы |
| url | https://www.gastro-j.ru/jour/article/view/59 |
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