Lipedema: An Inherited Condition
Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS; 2010
Synopsis: This article presents a series of pedigrees to support the proposition that lipedema is a genetic condition, distinct from obesity and associated with pain, tenderness, and bruising. Lipedema appears to almost exclusively affect females, and is presumably estrogen-requiring, as it often manifests at puberty.
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.
Keywords: lipedema, lipoedema, genetic, swelling, estrogen, obesity, inherited, lymphedema, lipodystrophy, autosomal dominant, X-linked dominant
APA Citation: Child, A.H., Gordon K.D., Sharpe P., Brice G., Ostergaard P., Jeffery S., & Mortimer P.S. (2010). Lipedema: An inherited condition. Am J Med Genet Part A ,152(A), 970976.
AMA Citation: Child AH, Gordon KD, Sharpe P, Brice G, Ostergaard P, Jeffery S, Mortimer PS. Lipedema: An inherited condition. Am J Med Genet Part A. 2010;152A:970976.
