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Lipedema: An inherited condition
Author(s) -
Child Anne H.,
Gordon Kristiana D.,
Sharpe Pip,
Brice Glen,
Ostergaard Pia,
Jeffery Steve,
Mortimer Peter S.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33313
Subject(s) - lymphedema , medicine , inheritance (genetic algorithm) , obesity , pedigree chart , subcutaneous fat , dermatology , genetics , adipose tissue , biology , cancer , gene , breast cancer
Lipedema is a condition characterized by swelling and enlargement of the lower limbs due to abnormal deposition of subcutaneous fat. Lipedema is an under‐recognized condition, often misdiagnosed as lymphedema or dismissed as simple obesity. We present a series of pedigrees and propose that lipedema is a genetic condition with either X‐linked dominant inheritance or more likely, autosomal dominant inheritance with sex limitation. Lipedema appears to be a condition almost exclusively affecting females, presumably estrogen‐requiring as it usually manifests at puberty. Lipedema is an entity distinct from obesity, but may be wrongly diagnosed as primary obesity, due to clinical overlap. The phenotype suggests a condition distinct from obesity and associated with pain, tenderness, and easy bruising in affected areas. © 2010 Wiley‐Liss, Inc.