Lipedema is one of the most often underdiagnosed conditions among subcutaneous adipose tissue (SAT) accumulation-related disorders. It is characterized by pain associated disproportional, bilateral and symmetrical SAT deposition mostly in lower extremities and arms that mainly affects women, especially during phases of hormonal changes. Weight-loss interventions are not effective in reducing lipedema SAT mass.  

Until now, an autosomal dominance with incomplete penetrance is the proposed inheritance pattern for lipedema onset, although no specific lipedema genes have been identified yet. Moreover, the mechanisms associated with lipedema progression and clinical manifestation are unknown, as well as circulating biomarkers to support its diagnosis. 

In this Project, we aim to investigate the mechanisms underlying the onset, progression and clinical manifestations of lipedema. Our hypothesis is that lipedema may serve as a model to investigate mechanisms linking SAT expansion to cardio-metabolic risk.  

To test this, we perform subsequent analyses of lipedema-affected SAT structure and function using histological, transcriptomic and single-cell approaches additionally to our proteomic approach.