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

Abstract：

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.

journal_name

Eur Rev Med Pharmacol Sci

journal_title

European review for medical and pharmacological sciences

authors

Paolacci S,Precone V,Acquaviva F,Chiurazzi P,Fulcheri E,Pinelli M,Buffelli F,Michelini S,Herbst KL,Unfer V,Bertelli M,GeneOb Project.

doi

10.26355/eurrev_201907_18292

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

5581-5594

issue

13

eissn

1128-3602

issn

2284-0729

journal_volume

23

pub_type

杂志文章,评审

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