Project: Building Lipedema Research Resources

Co-Principal Investigator: Rachelle Crescenzi, PhD
Assistant Professor of Radiology
Vanderbilt University Institute of Imaging Science
Department of Radiology
Vanderbilt University Medical Center
Nashville, TN

Co-Principal Investigator: Aaron W. Aday, MD, Msc
Assistant Professor of Medicine
Division of Cardiovascular Medicine
Vanderbilt University Medical Center
Nashville, TN

Summary

This project aims to advance the understanding and diagnosis of Lipedema by creating a biorepository focused on Lipedema research. The biorepository will curate biological samples from clinically characterized patients with Lipedema and adults without Lipedema. This resource will test and generate new hypotheses that contribute to continuing Lipedema research.

Background

Prior research using magnetic resonance imaging (MRI) discovered profiles of high leg subcutaneous adipose tissue (SAT) volume in patients with Lipedema compared to healthy females with similar body mass index (BMI). Furthermore, sodium MRI and MR lymphangiography showed tissue sodium storage and edema in Lipedema SAT. There is a critical need to define the corresponding pathology. Towards this end, we propose to develop a biorepository resource suitable for testing hypotheses informed by imaging features of fat, salt, and edema in Lipedema.

Methodology

This is a resource development project with two aims. The first aim will focus on managing and characterizing a historic Lipedema biorepository collected from participants in the USA. This aim will also test and develop new hypotheses about Lipedema pathology to identify specific markers of disease from paraffin-embedded tissue, blood, and frozen punch biopsies. 

The second aim will focus on prospective collection of biological samples and associated data from participants with and without lipedema. Biological sample collection will include blood, urine, and punch biopsies of skin and subcutaneous adipose tissue. Associated data types will include at least qualitative and functional quality-of-life assessments, clinical evaluation, and biophysical measurements of BMI, waist-to-hip ratio, bioimpedance, tissue dielectric, limb volume, and ultrasonography. 

Databasing efforts will ensure this significant resource is accessible and organized for appropriate hypothesis testing over the duration of the resource life.

Expected outcomes

Findings from this study should enhance our understanding of biological pathways involved in lipedema, and facilitate the identification of differential markers of disease in blood and at the tissue level.

Long-term goals of these efforts are intended to facilitate the next phase of research seeking to explore emerging phenotypes of lipedema and corresponding pathology, genetics, and molecular players of disease.

Practical implementations of results

Often misdiagnosed as obesity, a clinical diagnosis of lipedema requires specialized training that is not accessible to most patients suffering from this disease. There remains a substantial need for ways to distinguish lipedema from obesity that rely on objective criteria. By building a biorepository resource for lipedema research, our team will help bridge the gap between discovery of objective in vivo imaging biomarkers and criteria for lipedema pathology towards overcoming misdiagnosis. 

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