Genetics of lipedema: new perspectives on genetic research and molecular diagnoses

Eur Rev Med Pharmacol Sci. 2019 Jul;23(13):5581-5594. doi: 10.26355/eurrev_201907_18292.


Objective: The aim of this qualitative review is to provide an update on the current understanding of the genetic determinants of lipedema and to develop a genetic test to differentiate lipedema from other diagnoses.

Materials and methods: An electronic search was conducted in MEDLINE, PubMed, and Scopus for articles published in English up to March 2019. Lipedema and similar disorders included in the differential diagnosis of lipedema were searched in the clinical synopsis section of OMIM, in GeneCards, Orphanet, and MalaCards.

Results: The search identified several genetic factors related to the onset of lipedema and highlighted the utility of developing genetic diagnostic testing to help differentiate lipedema from other diagnoses.

Conclusions: No genetic tests or guidelines for molecular diagnosis of lipedema are currently available, despite the fact that genetic testing is fundamental for the differential diagnosis of lipedema against Mendelian genetic obesity, primary lymphedema, and lipodystrophies.

Publication types

  • Review

MeSH terms

  • Aldehyde Dehydrogenase / genetics
  • Databases, Factual
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • Lipedema / diagnosis*
  • Lipedema / genetics
  • Lipedema / pathology
  • Lipodystrophy, Familial Partial / genetics
  • Lipodystrophy, Familial Partial / pathology
  • Multidrug Resistance-Associated Proteins / genetics
  • Perilipin-1 / genetics
  • Severity of Illness Index
  • Trans-Activators / genetics


  • ABCC6 protein, human
  • Multidrug Resistance-Associated Proteins
  • PLIN1 protein, human
  • POU2AF1 protein, human
  • Perilipin-1
  • Trans-Activators
  • ALDH18A1 protein, human
  • Aldehyde Dehydrogenase
  • Histone-Lysine N-Methyltransferase
  • NSD1 protein, human