Familial partial lipodystrophy syndromes

Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due to different pathogenetic mechanisms leading to i...

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Published in:La Presse médicale (1983) 2021-11, Vol.50 (3), p.104071-104071, Article 104071
Main Authors: Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Araújo-Vilar, David
Format: Article
Language:English
Subjects:
Body Composition
Exercise Therapy
Humans
Hypoglycemic Agents - therapeutic use
Insulin Resistance
Leptin - analogs & derivatives
Leptin - therapeutic use
Lipid Metabolism - genetics
Lipodystrophy, Familial Partial - complications
Lipodystrophy, Familial Partial - diagnosis
Lipodystrophy, Familial Partial - genetics
Lipodystrophy, Familial Partial - therapy
Medical History Taking
Metabolic Diseases - etiology
Metabolic Diseases - therapy
Phenotype
Physical Examination
Syndrome
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Summary:Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due to different pathogenetic mechanisms leading to improper fat distribution (loss of fat in the limbs and gluteal region and variable regional fat accumulation). Affected patients are prone to suffering serious morbidity via the development of metabolic complications associated to insulin resistance and an inability to properly store lipids. Although no well-defined diagnostic criteria have been established for lipodystrophy, there are certain clues related to medical history, physical examination and body composition evaluation that may suggest FPLD prior to confirmatory genetic analysis. Its treatment must be fundamentally oriented towards the control of the metabolic abnormalities. In this sense, metreleptin therapy, the newer classes of hypoglycaemic agents and other investigational drugs are showing promising results. This review aims to summarise the current knowledge of FPLD syndromes and to describe their clinical and molecular picture, diagnostic approaches and recent treatment modalities.
ISSN:0755-4982
2213-0276
DOI:10.1016/j.lpm.2021.104071