What is the etiology of lipedema?

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From the Research

Etiology of Lipedema

The etiology of lipedema is not yet fully understood, but several studies have investigated its potential causes.

  • Lipedema is thought to occur during periods of hormonal fluctuation, such as puberty, pregnancy, or menopause 1.
  • Estrogen is believed to play a contributory role in the pathophysiology of lipedema, with dysregulation of adipose tissue accumulation via estrogen signaling potentially leading to increased adipogenesis and adipocyte lipid deposition 1.
  • Genetic factors may also contribute to the development of lipedema, with some studies suggesting that it may be an inherited condition with autosomal dominant inheritance or X-linked dominant inheritance 2, 3.
  • However, a study of 31 individuals from 9 lipedema families found no individual genes that contained likely disease-causing variants across all participating families, suggesting genetic heterogeneity in the etiology of lipedema 2.

Potential Mechanisms

Several potential mechanisms have been proposed to contribute to the development of lipedema, including:

  • Altered adipocyte estrogen receptor distribution and subsequent metabolic signaling 1.
  • Increased release of adipocyte-produced steroidogenic enzymes leading to increased paracrine estrogen release 1.
  • Vasopressin receptor activity, microfibril binding, and patched binding may also be involved in the etiology of lipedema, as these categories were found to be statistically significantly overrepresented in a gene ontology analysis of candidate variants 2.

Clinical Characteristics

Lipedema is characterized by:

  • Bilateral and disproportionate accumulation of subcutaneous adipose tissue in the lower body 1, 4.
  • Chronic pain, swelling, and other discomforts due to the expansion of subcutaneous adipose tissue 4.
  • Easy bruising and pain in affected areas 5, 3.
  • A classic "column leg" appearance in later stages, with masses of nodular fat 5.

References

Research

A Family-Based Study of Inherited Genetic Risk in Lipedema.

Lymphatic research and biology, 2024

Research

Lipedema: an inherited condition.

American journal of medical genetics. Part A, 2010

Research

Lipedema: A Relatively Common Disease with Extremely Common Misconceptions.

Plastic and reconstructive surgery. Global open, 2016

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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