• Antía Fernández-Pombo, Sofía Sánchez-Iglesias, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, and David Araújo-Vilar.
• UETeM-Molecular Pathology of Rare Diseases Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CiMUS, University of Santiago de Compostela, Santiago de Compostela 15782, Spain; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706, Spain.
• Presse Med. 2021 Nov 1; 50 (3): 104071.

AbstractLipodystrophies 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.Copyright © 2021 Elsevier Masson SAS. All rights reserved.

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