Generalized lipoatrophy syndromes

Presse Med. 2021 Nov;50(3):104075. doi: 10.1016/j.lpm.2021.104075. Epub 2021 Sep 22.

Abstract

Generalized lipodystrophy (GL) syndromes are a group of rare heterogenous disorders, characterized by total subcutaneous fat loss. The frequency of GL is currently assessed as approximately 0,23 cases per million of the population, in Europe - as 0,96 cases per million of the population. They can be congenital (CGL) or acquired (AGL) depending on the etiology and the time of the onset of fat loss. Both CGL and AGL are often associated with different metabolic complications, such as hypertriglyceridemia, insulin resistance and lipoatrophic diabetes mellitus, metabolically associated FLD, arterial hypertension, proteinuria, reproductive system disorders. In this review we aimed to summarize the information on all forms of generalized lipodystrophy, especially the ones of genetic etiology, their clinical manifestations and complications, the perspectives for diagnostics, treatment and further research.

Keywords: Acquired generalized lipodystrophy; Berardinelli-Seip syndrome; Congenital generalized lipodystrophy; Hypertriglyceridemia; Lipoatrophic diabetes mellitus; Progeroid syndromes.

Publication types

  • Review

MeSH terms

  • Acyltransferases / genetics
  • Age of Onset
  • Caveolin 1 / genetics
  • DNA-Binding Proteins / genetics
  • Diabetes Mellitus, Lipoatrophic / complications
  • Diagnosis, Differential
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels / genetics
  • GTP-Binding Protein gamma Subunits / genetics
  • Genital Diseases / complications
  • Humans
  • Hypertension / complications
  • Hypertriglyceridemia / complications
  • Insulin Resistance
  • Lamin Type A / genetics
  • Lipodystrophy* / classification
  • Lipodystrophy* / diagnosis
  • Lipodystrophy* / etiology
  • Lipodystrophy* / genetics
  • Lipodystrophy, Congenital Generalized / classification
  • Lipodystrophy, Congenital Generalized / genetics
  • Mandible / abnormalities
  • Membrane Proteins / genetics
  • Metalloendopeptidases / genetics
  • Mutation
  • Progeria / genetics
  • Proteinuria / complications
  • RNA Polymerase III / genetics
  • RNA-Binding Proteins / genetics
  • Syndrome
  • Werner Syndrome Helicase / genetics

Substances

  • BANF1 protein, human
  • BSCL2 protein, human
  • CAV1 protein, human
  • CAVIN1 protein, human
  • Caveolin 1
  • DNA-Binding Proteins
  • G Protein-Coupled Inwardly-Rectifying Potassium Channels
  • GTP-Binding Protein gamma Subunits
  • KCNJ6 protein, human
  • LMNA protein, human
  • Lamin Type A
  • Membrane Proteins
  • RNA-Binding Proteins
  • SPRTN protein, human
  • Acyltransferases
  • 2-acylglycerophosphate acyltransferase
  • POLR3A protein, human
  • RNA Polymerase III
  • Metalloendopeptidases
  • ZMPSTE24 protein, human
  • WRN protein, human
  • Werner Syndrome Helicase