Familial Partial Lipodystrophy (FPLD): Recent Insights

Christos Bagias,1 Angeliki Xiarchou,1 Alexandra Bargiota,2 Stelios Tigas1 1Department of Endocrinology, University of Ioannina, Ioannina, Greece; 2Department of Endocrinology, University of Thessaly, Larissa, GreeceCorrespondence: Stelios TigasDepartment of Endocrinology, University of Ioannina, Ioa...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Bagias C, Xiarchou A, Bargiota A, Tigas S
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2020
Materias:	lipodystrophy partial lipodystrophy familial lipodystrophy leptin Specialties of internal medicine RC581-951
Acceso en línea:	https://doaj.org/article/5d322bff0b7e4dad8b9676997ae991a9
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:5d322bff0b7e4dad8b9676997ae991a9
record_format	dspace
spelling	oai:doaj.org-article:5d322bff0b7e4dad8b9676997ae991a92021-12-02T09:07:09ZFamilial Partial Lipodystrophy (FPLD): Recent Insights1178-7007https://doaj.org/article/5d322bff0b7e4dad8b9676997ae991a92020-05-01T00:00:00Zhttps://www.dovepress.com/familial-partial-lipodystrophy-fpld-recent-insights-peer-reviewed-article-DMSOhttps://doaj.org/toc/1178-7007Christos Bagias,1 Angeliki Xiarchou,1 Alexandra Bargiota,2 Stelios Tigas1 1Department of Endocrinology, University of Ioannina, Ioannina, Greece; 2Department of Endocrinology, University of Thessaly, Larissa, GreeceCorrespondence: Stelios TigasDepartment of Endocrinology, University of Ioannina, Ioannina 45110, GreeceTel +30 2651007800Email stigas@uoi.grAbstract: Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia and hepatic steatosis being the cardinal metabolic features. The severity of the metabolic derangements is in proportion with the degree of lipoatrophy. The underpinning pathogenetic mechanism is the limited capacity of adipose tissue to store lipids leading to lipotoxicity, low-grade inflammation, altered adipokine secretion and ectopic fat tissue accumulation. Advances in molecular genetics have led to the discovery of new genes and improved our knowledge of the regulation of adipose tissue biology. Diagnosis relies predominantly on clinical findings, such as abnormal fat tissue topography and signs of insulin resistance and is confirmed by genetic analysis. In addition to anthropometry and conventional imaging, new techniques such as color-coded imaging of fat depots allow more accurate assessment of the regional fat distribution and differentiation of lipodystrophic syndromes from common metabolic syndrome phenotype. The treatment of patients with lipodystrophy has proven to be challenging. The use of a human leptin analogue, metreleptin, has recently been approved in the management of FPLD with evidence suggesting improved metabolic profile, satiety, reproductive function and self-perception. Preliminary data on the use of glucagon-like peptide 1 receptor agonists (GLP1 Ras) and sodium-glucose co-transporter 2 (SGLT2) inhibitors in cases of FPLD have shown promising results with reduction in total insulin requirements and improvement in glycemic control. Finally, investigational trials for new therapeutic agents in the management of FPLD are underway.Keywords: lipodystrophy, partial lipodystrophy, familial lipodystrophy, leptinBagias CXiarchou ABargiota ATigas SDove Medical Pressarticlelipodystrophypartial lipodystrophyfamilial lipodystrophyleptinSpecialties of internal medicineRC581-951ENDiabetes, Metabolic Syndrome and Obesity: Targets and Therapy, Vol Volume 13, Pp 1531-1544 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	lipodystrophy partial lipodystrophy familial lipodystrophy leptin Specialties of internal medicine RC581-951
spellingShingle	lipodystrophy partial lipodystrophy familial lipodystrophy leptin Specialties of internal medicine RC581-951 Bagias C Xiarchou A Bargiota A Tigas S Familial Partial Lipodystrophy (FPLD): Recent Insights
description	Christos Bagias,1 Angeliki Xiarchou,1 Alexandra Bargiota,2 Stelios Tigas1 1Department of Endocrinology, University of Ioannina, Ioannina, Greece; 2Department of Endocrinology, University of Thessaly, Larissa, GreeceCorrespondence: Stelios TigasDepartment of Endocrinology, University of Ioannina, Ioannina 45110, GreeceTel +30 2651007800Email stigas@uoi.grAbstract: Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic variability with insulin resistance, hypertriglyceridemia and hepatic steatosis being the cardinal metabolic features. The severity of the metabolic derangements is in proportion with the degree of lipoatrophy. The underpinning pathogenetic mechanism is the limited capacity of adipose tissue to store lipids leading to lipotoxicity, low-grade inflammation, altered adipokine secretion and ectopic fat tissue accumulation. Advances in molecular genetics have led to the discovery of new genes and improved our knowledge of the regulation of adipose tissue biology. Diagnosis relies predominantly on clinical findings, such as abnormal fat tissue topography and signs of insulin resistance and is confirmed by genetic analysis. In addition to anthropometry and conventional imaging, new techniques such as color-coded imaging of fat depots allow more accurate assessment of the regional fat distribution and differentiation of lipodystrophic syndromes from common metabolic syndrome phenotype. The treatment of patients with lipodystrophy has proven to be challenging. The use of a human leptin analogue, metreleptin, has recently been approved in the management of FPLD with evidence suggesting improved metabolic profile, satiety, reproductive function and self-perception. Preliminary data on the use of glucagon-like peptide 1 receptor agonists (GLP1 Ras) and sodium-glucose co-transporter 2 (SGLT2) inhibitors in cases of FPLD have shown promising results with reduction in total insulin requirements and improvement in glycemic control. Finally, investigational trials for new therapeutic agents in the management of FPLD are underway.Keywords: lipodystrophy, partial lipodystrophy, familial lipodystrophy, leptin
format	article
author	Bagias C Xiarchou A Bargiota A Tigas S
author_facet	Bagias C Xiarchou A Bargiota A Tigas S
author_sort	Bagias C
title	Familial Partial Lipodystrophy (FPLD): Recent Insights
title_short	Familial Partial Lipodystrophy (FPLD): Recent Insights
title_full	Familial Partial Lipodystrophy (FPLD): Recent Insights
title_fullStr	Familial Partial Lipodystrophy (FPLD): Recent Insights
title_full_unstemmed	Familial Partial Lipodystrophy (FPLD): Recent Insights
title_sort	familial partial lipodystrophy (fpld): recent insights
publisher	Dove Medical Press
publishDate	2020
url	https://doaj.org/article/5d322bff0b7e4dad8b9676997ae991a9
work_keys_str_mv	AT bagiasc familialpartiallipodystrophyfpldrecentinsights AT xiarchoua familialpartiallipodystrophyfpldrecentinsights AT bargiotaa familialpartiallipodystrophyfpldrecentinsights AT tigass familialpartiallipodystrophyfpldrecentinsights
_version_	1718398246521405440

Familial Partial Lipodystrophy (FPLD): Recent Insights

Ejemplares similares