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...
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MDPI AG
2023-07-01
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| Series: | International Journal of Molecular Sciences |
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| author | Aikaterini Kountouri Emmanouil Korakas Eirini Maratou Ignatios Ikonomidis Konstantinos Balampanis Stavros Liatis Nikolaos Tentolouris Panagiotis Toulas Foteini Kousathana Christophoros Giatzakis George D. Dimitriadis Vaia Lambadiari |
| author_facet | Aikaterini Kountouri Emmanouil Korakas Eirini Maratou Ignatios Ikonomidis Konstantinos Balampanis Stavros Liatis Nikolaos Tentolouris Panagiotis Toulas Foteini Kousathana Christophoros Giatzakis George D. Dimitriadis Vaia Lambadiari |
| author_sort | Aikaterini Kountouri |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-11T00:26:11Z |
| format | Article |
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| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T00:26:11Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-380988c500fc4f1682870aec700610d22023-11-18T22:59:37ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-07-0124151204510.3390/ijms241512045Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral CenterAikaterini Kountouri0Emmanouil Korakas1Eirini Maratou2Ignatios Ikonomidis3Konstantinos Balampanis4Stavros Liatis5Nikolaos Tentolouris6Panagiotis Toulas7Foteini Kousathana8Christophoros Giatzakis9George D. Dimitriadis10Vaia Lambadiari11Second Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceSecond Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceLaboratory of Clinical Biochemistry, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceLaboratory of Preventive Cardiology, Second Cardiology Department, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceSecond Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceFirst Department of Propaedeutic and Internal Medicine, Medical School, National and Kapodistrian University of Athens, Laiko General Hospital, 11527 Athens, GreeceFirst Department of Propaedeutic and Internal Medicine, Medical School, National and Kapodistrian University of Athens, Laiko General Hospital, 11527 Athens, GreeceBioiatriki Healthcare Group, 11526 Athens, GreeceSecond Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceDNAbiolab, Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, 71306 Heraklion, GreeceSector of Medicine, Medical School, National and Kapodistrian University of Athens, 15772 Athens, GreeceSecond Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, GreeceFamilial 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.https://www.mdpi.com/1422-0067/24/15/12045lipodystrophydiabetes mellitusFPLDmetreleptinexonsintrons |
| spellingShingle | Aikaterini Kountouri Emmanouil Korakas Eirini Maratou Ignatios Ikonomidis Konstantinos Balampanis Stavros Liatis Nikolaos Tentolouris Panagiotis Toulas Foteini Kousathana Christophoros Giatzakis George D. Dimitriadis Vaia Lambadiari Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center International Journal of Molecular Sciences lipodystrophy diabetes mellitus FPLD metreleptin exons introns |
| 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 | lipodystrophy diabetes mellitus FPLD metreleptin exons introns |
| url | https://www.mdpi.com/1422-0067/24/15/12045 |
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