Lipedema: an inherited condition.

نویسندگان

  • Anne H Child
  • Kristiana D Gordon
  • Pip Sharpe
  • Glen Brice
  • Pia Ostergaard
  • Steve Jeffery
  • Peter S Mortimer
چکیده

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.

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عنوان ژورنال:
  • American journal of medical genetics. Part A

دوره 152A 4  شماره 

صفحات  -

تاریخ انتشار 2010