Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 152A, Issue 4, Pages 970-976Publisher
WILEY
DOI: 10.1002/ajmg.a.33313
Keywords
lipedema; lymphedema; lipodystrophy; autosomal dominant; X-linked dominant
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Funding
- St. George's, University of London
- St. George's NHS Hospital Trust
- Daphne Jackson Trust
- British Skin Foundation
- British Heart Foundation [PG/10/58/28477] Funding Source: researchfish
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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. (c) 2010 Wiley-Liss, Inc.
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