Intersection between hypermobile Ehlers-Danlos syndrome and adipose disorders: investigating fascial remodeling with ultrasound imaging

Purpose: Dercum disease and lipedema commonly present with joint hypermobility, yet the relationship between these adipose disorders (AD) and hypermobile Ehlers-Danlos syndrome (hEDS) remains insufficiently understood. To date, no research has simultaneously examined hEDS and adipose disorders, leaving a critical gap in understanding their interplay. This investigation seeks to address diagnostic challenges and provide insights to inform more effective management strategies for these complex, overlapping conditions. Methods: The study included 25 participants: 17 with hEDS and co-occurring adipose disorders (Dercum disease or lipedema) and 8 with hEDS alone. Ultrasound imaging was conducted to evaluate the superficial and deep fascia over the lower limbs and torso. Imaging sites included the right malleolus, anterior tibia, lateral fibula, thigh, and the abdomen to the right of the navel. Angiolipomas in these regions were also assessed. Fascial thickness measurements were compared between the two groups using the Mann–Whitney U-test. The 17 participants with co-occurring adipose disorders and hEDS completed a survey that included assessments of medical history, COMPASS-31 dysautonomia scores, immune dysfunction symptoms, a lipedema questionnaire, and a Dercum-associated symptoms list. A correlation matrix was used to evaluate relationships between symptomatology, systemic comorbidities, and fascial thickness in the group with hEDS and co-occurring adipose disorders and those with hEDS alone. Results: Participants with hEDS and co-occurring adipose disorders exhibited significantly increased deep and superficial fascia thickness across all lower limb regions compared to those with hEDS alone (p < 0.05). Deep fascia thickness was significantly greater in the thigh (2.4 ± 1.1 mm vs. 1.3 ± 0.6 mm, p < 0.0001), lateral leg (1.5 ± 0.4 mm vs. 0.8 ± 0.2 mm, p = 0.012), and pretibial region (1.3 ± 0.3 mm vs. 0.9 ± 0.2 mm, p = 0.003). Superficial fascia thickness was also significantly increased in the thigh (21.7 ± 9.5 mm vs. 7.7 ± 3.1 mm, p < 0.0001), pretibial region (7.9 ± 3.7 mm vs. 4.0 ± 1.2 mm, p = 0.001), and supramalleolar region (4.6 ± 1.4 mm vs. 3.3 ± 1.4 mm, p = 0.022). A moderate correlation was observed between deep and superficial fascia thickness across all regions except the lateral leg. Pretibial superficial fascia thickness demonstrated a moderate positive correlation with immune dysfunction scores (r = 0.48). No significant correlations were found between fascial thickness and lipedema stage, lipedema type, lipedema questionnaire scores, Dercum symptom list, or COMPASS-31 scores. However, a moderate positive correlation was noted between immune dysfunction symptoms and COMPASS-31 scores (r = 0.52) in participants with co-occurring hEDS and adipose disorders. Conclusions: In hEDS with co-occurring adipose disorders, distinct patterns of fascial remodeling are evident. Integrating ultrasound into diagnostic and management strategies may enhance the identification and treatment of these overlapping conditions. The observed relationship between fascia thickness and immune dysfunction highlights a potential role of immune dysfunction in driving inflammatory changes.