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Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
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Lipedema: an inherited condition.

Anne H Child1, Kristiana D Gordon, Pip Sharpe

  • 1Department of Cardiac and Vascular Sciences, St. George's, University of London, London, UK. achild@sgul.ac.uk

American Journal of Medical Genetics. Part A
|April 2, 2010
PubMed
Summary
This summary is machine-generated.

Lipedema, a condition causing lower limb swelling from abnormal fat, is likely a genetic disorder. Research suggests it follows autosomal dominant inheritance with sex limitation, primarily affecting females.

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Area of Science:

  • Medical genetics
  • Human physiology
  • Metabolic disorders

Background:

  • Lipedema is characterized by abnormal subcutaneous fat deposition, leading to lower limb swelling.
  • It is frequently misdiagnosed as lymphedema or obesity, contributing to its under-recognition.
  • The condition presents distinct phenotypes including pain, tenderness, and easy bruising.

Purpose of the Study:

  • To investigate the genetic basis of lipedema.
  • To differentiate lipedema from simple obesity.
  • To propose a mode of inheritance for lipedema.

Main Methods:

  • Analysis of patient pedigrees.
  • Clinical examination and phenotyping.
  • Differential diagnosis from obesity and lymphedema.

Main Results:

  • Lipedema exhibits a pattern consistent with genetic inheritance.
  • Evidence suggests X-linked dominant or autosomal dominant inheritance with sex limitation.
  • The condition primarily affects females, manifesting around puberty, suggesting hormonal influence.

Conclusions:

  • Lipedema is a distinct genetic condition, not simply obesity.
  • Autosomal dominant inheritance with sex limitation is the most probable genetic model.
  • Further research into the genetic and hormonal factors of lipedema is warranted.