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Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center
Familial partial lipodystrophy (FPLD) is a rare syndrome in which a patient’s phenotype is not merely dependent on the specific genetic mutation, but it is also defined by a combination of other demographic, environmental and genetic factors. In this prospective observational study in a Greek referr...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419242/ https://www.ncbi.nlm.nih.gov/pubmed/37569420 http://dx.doi.org/10.3390/ijms241512045 |
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author | Kountouri, Aikaterini Korakas, Emmanouil Maratou, Eirini Ikonomidis, Ignatios Balampanis, Konstantinos Liatis, Stavros Tentolouris, Nikolaos Toulas, Panagiotis Kousathana, Foteini Giatzakis, Christophoros Dimitriadis, George D. Lambadiari, Vaia |
author_facet | Kountouri, Aikaterini Korakas, Emmanouil Maratou, Eirini Ikonomidis, Ignatios Balampanis, Konstantinos Liatis, Stavros Tentolouris, Nikolaos Toulas, Panagiotis Kousathana, Foteini Giatzakis, Christophoros Dimitriadis, George D. Lambadiari, Vaia |
author_sort | Kountouri, Aikaterini |
collection | PubMed |
description | Familial partial lipodystrophy (FPLD) is a rare syndrome in which a patient’s phenotype is not merely dependent on the specific genetic mutation, but it is also defined by a combination of other demographic, environmental and genetic factors. In this prospective observational study in a Greek referral center, we enrolled 39 patients who fulfilled the clinical criteria of FPLD. A genetic analysis was conducted, which included sequence and deletion/duplication analyses of the LMNA and PPRARG genes, along with anthropometric and metabolic parameters. The treatment responses of patients who were eligible for treatment with metreleptin were evaluated at 3 and 12 months. In most of the patients, no significant changes were detected at the exon level, and any mutations that led to changes at the protein level were not associated with the lipodystrophic phenotype. On the contrary, various changes were detected at the intron level, especially in introns 7 and 10, whose clinical significance is considered unknown. In addition, treatment with metreleptin in specific FPLD patients significantly improved glycemic and lipidemic control, an effect which was sustained at the 12-month follow-up. More large-scale studies are necessary to clarify the genetic and allelic heterogeneity of the disease, along with other parameters which could predict treatment response. |
format | Online Article Text |
id | pubmed-10419242 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104192422023-08-12 Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center Kountouri, Aikaterini Korakas, Emmanouil Maratou, Eirini Ikonomidis, Ignatios Balampanis, Konstantinos Liatis, Stavros Tentolouris, Nikolaos Toulas, Panagiotis Kousathana, Foteini Giatzakis, Christophoros Dimitriadis, George D. Lambadiari, Vaia Int J Mol Sci Article Familial partial lipodystrophy (FPLD) is a rare syndrome in which a patient’s phenotype is not merely dependent on the specific genetic mutation, but it is also defined by a combination of other demographic, environmental and genetic factors. In this prospective observational study in a Greek referral center, we enrolled 39 patients who fulfilled the clinical criteria of FPLD. A genetic analysis was conducted, which included sequence and deletion/duplication analyses of the LMNA and PPRARG genes, along with anthropometric and metabolic parameters. The treatment responses of patients who were eligible for treatment with metreleptin were evaluated at 3 and 12 months. In most of the patients, no significant changes were detected at the exon level, and any mutations that led to changes at the protein level were not associated with the lipodystrophic phenotype. On the contrary, various changes were detected at the intron level, especially in introns 7 and 10, whose clinical significance is considered unknown. In addition, treatment with metreleptin in specific FPLD patients significantly improved glycemic and lipidemic control, an effect which was sustained at the 12-month follow-up. More large-scale studies are necessary to clarify the genetic and allelic heterogeneity of the disease, along with other parameters which could predict treatment response. MDPI 2023-07-27 /pmc/articles/PMC10419242/ /pubmed/37569420 http://dx.doi.org/10.3390/ijms241512045 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Kountouri, Aikaterini Korakas, Emmanouil Maratou, Eirini Ikonomidis, Ignatios Balampanis, Konstantinos Liatis, Stavros Tentolouris, Nikolaos Toulas, Panagiotis Kousathana, Foteini Giatzakis, Christophoros Dimitriadis, George D. Lambadiari, Vaia Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center |
title | Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center |
title_full | Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center |
title_fullStr | Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center |
title_full_unstemmed | Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center |
title_short | Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center |
title_sort | familial partial lipodystrophy: clinical features, genetics and treatment in a greek referral center |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419242/ https://www.ncbi.nlm.nih.gov/pubmed/37569420 http://dx.doi.org/10.3390/ijms241512045 |
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