Progressive macrophage accumulation in lysosomal acid lipase deficiency
Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in the synthesis and trafficking of cholesterol...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300409 |
| _version_ | 1819128378502938624 |
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| author | Patryk Lipiński Joanna Cielecka-Kuszyk Anna Bożkiewicz-Kasperczyk Barbara Perkowska Elżbieta Jurkiewicz Anna Tylki-Szymańska |
| author_facet | Patryk Lipiński Joanna Cielecka-Kuszyk Anna Bożkiewicz-Kasperczyk Barbara Perkowska Elżbieta Jurkiewicz Anna Tylki-Szymańska |
| author_sort | Patryk Lipiński |
| collection | DOAJ |
| description | Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in the synthesis and trafficking of cholesterol and other lipids (triglycerides as well as phospholipids) as well as the systemic lipoprotein dysregulation, reflects the pathophysiology of LAL-D.The aim of this study was to present the occurrence of macrophage derived structures in LAL-D patient, and to provide an overview on underlying mechanisms, as the literature about the presence of such cluster cells in LAL deficiency is sparse.We describe the case of LAL-D patient diagnosed at 3 years of age, in whom the massive macrophage accumulation resulting in the abdominal lymphadenopathy, subcutaneous papules and hepatosplenomegaly, have been observed within 4 years since diagnosis. Histopathological examination of the excised lymph nodes and subcutaneous papules revealed them to be diffusely infiltrated by lipid-overloaded histiocytes. The immunohistochemistry revealed the macrophages to be CD68-positive.This study comprises one of the first reports of accumulation of lipid-laden macrophages throughout the body in the course of LAL-D. |
| first_indexed | 2024-12-22T08:26:52Z |
| format | Article |
| id | doaj.art-cacff24eba664070bc13abc61f7e2e6b |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-22T08:26:52Z |
| publishDate | 2020-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-cacff24eba664070bc13abc61f7e2e6b2022-12-21T18:32:37ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-06-0123Progressive macrophage accumulation in lysosomal acid lipase deficiencyPatryk Lipiński0Joanna Cielecka-Kuszyk1Anna Bożkiewicz-Kasperczyk2Barbara Perkowska3Elżbieta Jurkiewicz4Anna Tylki-Szymańska5Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Pathology, The Children's Memorial Health Institute, Warsaw, PolandPediatric Center of John Paul II, Sosnowiec, PolandDepartment of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Corresponding author at: The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in the synthesis and trafficking of cholesterol and other lipids (triglycerides as well as phospholipids) as well as the systemic lipoprotein dysregulation, reflects the pathophysiology of LAL-D.The aim of this study was to present the occurrence of macrophage derived structures in LAL-D patient, and to provide an overview on underlying mechanisms, as the literature about the presence of such cluster cells in LAL deficiency is sparse.We describe the case of LAL-D patient diagnosed at 3 years of age, in whom the massive macrophage accumulation resulting in the abdominal lymphadenopathy, subcutaneous papules and hepatosplenomegaly, have been observed within 4 years since diagnosis. Histopathological examination of the excised lymph nodes and subcutaneous papules revealed them to be diffusely infiltrated by lipid-overloaded histiocytes. The immunohistochemistry revealed the macrophages to be CD68-positive.This study comprises one of the first reports of accumulation of lipid-laden macrophages throughout the body in the course of LAL-D.http://www.sciencedirect.com/science/article/pii/S2214426920300409Lysosomal acid lipaseLysosomal acid lipase deficiencyMacrophageLymphadenitisCD68 |
| spellingShingle | Patryk Lipiński Joanna Cielecka-Kuszyk Anna Bożkiewicz-Kasperczyk Barbara Perkowska Elżbieta Jurkiewicz Anna Tylki-Szymańska Progressive macrophage accumulation in lysosomal acid lipase deficiency Molecular Genetics and Metabolism Reports Lysosomal acid lipase Lysosomal acid lipase deficiency Macrophage Lymphadenitis CD68 |
| title | Progressive macrophage accumulation in lysosomal acid lipase deficiency |
| title_full | Progressive macrophage accumulation in lysosomal acid lipase deficiency |
| title_fullStr | Progressive macrophage accumulation in lysosomal acid lipase deficiency |
| title_full_unstemmed | Progressive macrophage accumulation in lysosomal acid lipase deficiency |
| title_short | Progressive macrophage accumulation in lysosomal acid lipase deficiency |
| title_sort | progressive macrophage accumulation in lysosomal acid lipase deficiency |
| topic | Lysosomal acid lipase Lysosomal acid lipase deficiency Macrophage Lymphadenitis CD68 |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300409 |
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