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Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. R482-LMNA gene mutation is the hot-spot for familial partial lipodystrophic syndromes (FPLD2) and is characterized by an increase of intra-abdominal (visceral) fat. In contrast, the visceral fat phenotype of non-R482-LMNA mutated patients has not been well studied.Objectives: To compare the fat amount and visceral repartition o...

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ea0035oc11.5 | Diabetes and Obesity 2 | ECE2014

Lipodystophic laminopathies are characterised by an increased intra/whole abdominal fat ratio with preserved fat/lean mass ratio and hypoleptinemia, in contrast with obese people, compared to controls

Le Mapihan Kristell , Leroy Clara , Ernst Olivier , Vigouroux Corinne , Lion Georges , Le Guillou Anne-Claire , Quintin Delphine , Douillard Claire , Vantyghem Marie-Christine

Introduction: The diagnosis of non-HIV lipodystrophies is challenging, especially since borderline forms with type 2 diabetes have been described (Strickland Diabetes Care 2013).Objective: To identify the most specific anthropometric and biological parameters enabling to differentiate lipodystrophic from obese and control subjects.Methods: This prospective study (clin.gov 2009-AO-1169-48) included 94 patients divided in 3 groups ad...

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Endocrine Abstracts

Visceral fat assessment in lamin A/C mutation carriers: phenotype –genotype correlation

Lipodystophic laminopathies are characterised by an increased intra/whole abdominal fat ratio with preserved fat/lean mass ratio and hypoleptinemia, in contrast with obese people, compared to controls

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