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Lipedema: An inherited condition

2010; Wiley; Volume: 152A; Issue: 4 Linguagem: Inglês

10.1002/ajmg.a.33313

1552-4833

Anne H. Child, Kristiana Gordon, Pip Sharpe, Glen Brice, Pia Østergaard, Steve Jeffery, Peter Mortimer,

Genetic and rare skin diseases.

Abstract 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.