Lipedema is is considered a chronic disease of loose connective tissue that predominantly affects women especially during phases of hormonal changes. Lipedema manifests in pronounced changes in subcutaneous adipose tissue (SAT) morphology and consistency . It is characterized by disproportional, bilateral and symmetrical SAT deposition mostly in lower extremities and arms. It has been associated with pain, easy bruising, swelling, and classical weight-loss interventions are frequently not effective in reducing symptoms and SAT mass in affected subcutaneous fat depots. Despite a proposed autosomal dominance with incomplete penetrance as inheritance pattern for lipedema onset, no specific “causative” genes have been identified so far. Moreover, the mechanisms associated with lipedema progression, clinical manifestation, as well as circulating biomarkers to support the diagnosis remain unknown.

This project aims to investigate the mechanisms underlying the onset, progression and clinical manifestations of lipedema, integrating a multi-omics approach (genomic, bulk and single-cell transcriptomic as well as proteomic analyses). The generated knowledge may also serve as a model to investigate mechanisms linking SAT expansion to cardio-metabolic risk.