Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Steatotic liver disease is common in the general population and is associated with higher risk for cardiovascular diseases. Early diagnosis and appropriate therapy can prevent the development of irreversible end-stage liver fibrosis and reduce liver-related and cardiovascular mortality. It is import...
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MDPI AG
2024-12-01
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| Online Access: | https://www.mdpi.com/2673-4389/4/4/47 |
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| author | Elena Vorona Ekaterina Sorkina Jonel Trebicka |
| author_facet | Elena Vorona Ekaterina Sorkina Jonel Trebicka |
| author_sort | Elena Vorona |
| collection | DOAJ |
| description | Steatotic liver disease is common in the general population and is associated with higher risk for cardiovascular diseases. Early diagnosis and appropriate therapy can prevent the development of irreversible end-stage liver fibrosis and reduce liver-related and cardiovascular mortality. It is important to recognise not only the common causes of metabolic dysfunction-associated steatotic liver disease, such as type 2 diabetes mellitus or morbid obesity, but also rare conditions, because their treatment is different from conventional therapy. Here, we report a female patient with familial partial lipodystrophy, in whom the diagnosis was not confirmed until several years after the initial manifestation, which delayed the start of pathogenetic therapy. After the initiation of leptin replacement therapy, a significant improvement in liver stiffness measurement was achieved within a few months. In addition, we summarise the current treatment options for diabetes and their influence on steatosis hepatis. |
| format | Article |
| id | doaj-art-7ff19c3d659841d3abaaf4bdc8a1d54c |
| institution | Kabale University |
| issn | 2673-4389 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Livers |
| spelling | doaj-art-7ff19c3d659841d3abaaf4bdc8a1d54c2024-12-27T14:36:31ZengMDPI AGLivers2673-43892024-12-014468869510.3390/livers4040047Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the LiteratureElena Vorona0Ekaterina Sorkina1Jonel Trebicka2Medical Clinic B for Gastroenterology, Hepatology, Endocrinology and Clinical Infectiology, University Hospital Muenster, 48149 Muenster, GermanyTranslational and Clinical Research Institute, Newcastle University, Newcastle NE1 7RU, UKMedical Clinic B for Gastroenterology, Hepatology, Endocrinology and Clinical Infectiology, University Hospital Muenster, 48149 Muenster, GermanySteatotic liver disease is common in the general population and is associated with higher risk for cardiovascular diseases. Early diagnosis and appropriate therapy can prevent the development of irreversible end-stage liver fibrosis and reduce liver-related and cardiovascular mortality. It is important to recognise not only the common causes of metabolic dysfunction-associated steatotic liver disease, such as type 2 diabetes mellitus or morbid obesity, but also rare conditions, because their treatment is different from conventional therapy. Here, we report a female patient with familial partial lipodystrophy, in whom the diagnosis was not confirmed until several years after the initial manifestation, which delayed the start of pathogenetic therapy. After the initiation of leptin replacement therapy, a significant improvement in liver stiffness measurement was achieved within a few months. In addition, we summarise the current treatment options for diabetes and their influence on steatosis hepatis.https://www.mdpi.com/2673-4389/4/4/47metabolic dysfunction-associated steatotic liver disease (MASLD)diabetes mellitushypertriglyceridemiafamilial partial lipodystrophy (FPL)LMNA |
| spellingShingle | Elena Vorona Ekaterina Sorkina Jonel Trebicka Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature Livers metabolic dysfunction-associated steatotic liver disease (MASLD) diabetes mellitus hypertriglyceridemia familial partial lipodystrophy (FPL) LMNA |
| title | Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature |
| title_full | Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature |
| title_fullStr | Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature |
| title_full_unstemmed | Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature |
| title_short | Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature |
| title_sort | progressive metabolic dysfunction associated steatotic liver disease masld from a young age due to a rare genetic disorder familial partial lipodystrophy a case report and review of the literature |
| topic | metabolic dysfunction-associated steatotic liver disease (MASLD) diabetes mellitus hypertriglyceridemia familial partial lipodystrophy (FPL) LMNA |
| url | https://www.mdpi.com/2673-4389/4/4/47 |
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