Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1785088470190915584
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
work_keys_str_mv AT kountouriaikaterini familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT korakasemmanouil familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT maratoueirini familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT ikonomidisignatios familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT balampaniskonstantinos familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT liatisstavros familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT tentolourisnikolaos familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT toulaspanagiotis familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT kousathanafoteini familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT giatzakischristophoros familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT dimitriadisgeorged familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter
AT lambadiarivaia familialpartiallipodystrophyclinicalfeaturesgeneticsandtreatmentinagreekreferralcenter