Lipedema: an inherited condition.
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.
Child
Anne H
AH
Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK. achild@sgul.ac.uk
Gordon
Kristiana D
KD
Sharpe
Pip
P
Brice
Glen
G
Ostergaard
Pia
P
Jeffery
Steve
S
Mortimer
Peter S
PS
D000328:Adult; D000368:Aged; D004487:Edema / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D007866:Leg / Q000473:pathology*; D008209:Lymphedema / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D050151:Subcutaneous Fat / Q000473:pathology*