Project: Investigating a functionally important population of immune cells as a biomarker and potential therapeutic target in Lipedema

Principal Investigator: Ramin Shayan, MBBS, Ph.D., PGDip Surg Anat., FRACS(Plast)
Director, O’Brien Institute Department
Associate Professor
Co-Head, Lymphatic, Adipose & Regenerative Medicine
St Vincent's Institute for Medical Research
Melbourne, Australia

Co-Principal Investigator: Tara Karnezis, PhD
Group Leader, Lymphatic and Regenerative Surgery, O’Brien Institute Department
Co-Head, Lymphatic, Adipose & Regenerative Medicine
St Vincent's Institute for Medical Research
Melbourne, Australia

Summary

This research explores the role of the immune system and inflammation in Lipedema patients. by studying the varieties of immune cells present in Lipedema tissues, to understand if they may be involved in the disease process or act as biomarkers of disease that indicate disease severity or form diagnostic criteria.

Background

Lipedema is a disease of progressive fat deposition in females that causes limb pain, heaviness, bruising, swelling and inflammation. The lack of disease biomarkers to allow diagnosis, characterization, staging and disease monitoring remains a barrier to research and clinical progress. Underlying mechanisms – particularly regarding inflammatory influences - are poorly understood. We hypothesize that inflammation plays a key role in Lipedema pathophysiology and that immune populations may provide avenues for treatment and useful biomarkers for diagnosis.

Methodology

This is a molecular biology study of thigh tissues of women with Lipedema. We will investigate extra tissues from Lipedema and non-Lipedema patients recruited from our clinic to understand immune cell composition, identify clues about the role of immune cells in Lipedema and whether those cells may be used as markers of disease. By studying molecular signals at all levels of Lipedema cells and tissues, we will identify unique immune cells and generate “cell maps” of Lipedema immune cells. We will test 20 Lipedema and 20 equivalent, unaffected patients to validate our data with greater numbers and uncover whether these cell populations represent unique biomarkers to distinguish Lipedema from other diseases. The study outcomes/measures will include changes in the types and numbers of different immune cells, machinery inside the cells, and actions of the cells in driving Lipedema. Data will be used to diagnose Lipedema and design new treatments.

Expected outcomes

Our pilot study showed unique immune cell populations in Lipedema patients, with a pro-inflammatory nature and gene signatures similar to immune cells in cancer. We expect to identify cells within tissues that define Lipedema and allow accurate diagnosis; and may provide targets for treatment via drug therapies. We hypothesize that these Lipedema immune cells are stimulated by a cell program that provides opportunity to “switch-off” the inflammatory component and potentially arrest disease progression or severity.

Practical implementations of results

Using validated, complimentary approaches to identify key immune drivers and underlying signaling pathways, we hope to define potential novel biomarkers and anti-immunity therapeutic strategies in Lipedema. The implications are in providing an avenue to diagnose lipedema and differentiate it from similar diseases that confuse the diagnosis. It may therefore mean improved access for patients for funding for existing treatments, and in addition, lead to new forms of treatment or prevention of Lipedema in earlier stages. 

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