Endocrine Abstracts

Lipodystrophy is a rare disorder characterised by loss of adipose tissue, severe insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis with hypoleptinemia. Renal complications are also present but end stage renal disease is less frequent in partial lipodystrophy. We report efficacy and pharmacokinetics of metreleptine during hemodialysis in one case of partial lipodystrophy. A caucasian female presented with acute pancreatitis, major hypertriglyceridemia (25 g/...

Bone is involved in both phosphate-calcium and energetic metabolism. Osteocalcin, secreted by the osteoblasts, stimulates insulin secretion and improves insulin sensitivity. FGF-23, secreted by the osteoclasts, increases phosphate urinary excretion and is a marker of insulin resistance. Relationship between insulin-resistance, body fat and bone metabolism remains unclear. Therefore, the aim of this study was to evaluate osteocalcin and FGF-23 levels in diseases differing by bo...

Irisin is a myokine correlated with lean body mass, despite its association with cardiovascular events (Mantzoros 2014). Increased muscle volume and lipoatrophy have been reported in female FPLD (Ji JCEM 214). Our aim was to determine whether irisin could help to distinguish certain lipodystrophic obesities from FPLD.Methods and patients: Circulating irisin levels (EIA Phoenix) were measured in 20 LMNA-related FPLD, 19 normal-weighed controls (H) and 13 ...

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...

Background: Lamin A/C mutations show heterogeneous phenotypes expanding from cardiopathies to lipodystrophies. LMNA-related heart disease has recently been shown to be associated with a high incidence of phenotypic progression and adverse arrhythmic and non-arrhythmic events. Anticipatory planning to prevent sudden death has been recommended in a multicentric cardiologic recruitment. Nevertheless the specific cardiac prognosis of R482-LMNA mutated patients, the hot-spot for pa...

LMNA mutations cause a wide range of diseases involving either specific tissues in isolated fashion (cardiac and skeletal muscles, nerve, adipose tissue) or several tissues in a generalized way (premature ageing syndromes…). The cardiac disease is defined by conduction and rhythm disturbances, followed by dilated cardiomyopathy, heart failure, and sudden cardiac death. We report an unusual case of laminopathy revealed by diabetes associated with conduction disturb...

Context: Anti-programmed cell death-1 (Anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations. Acquired generalized lipodystrophy (AGL), is a rare disease, thought to be immune-mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. We describe the first case of AGL induced by immune checkpoint therapy.<p class="ab...

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...

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...