The impact of dyspnea on health-related quality of life and physical activity in hypermobile Ehlers Danlos syndrome and generalized-hypermobility spectrum disorder.

BACKGROUND

Respiratory symptoms in Ehlers-Danlos syndrome (EDS) and generalized hypermobility spectrum disorder (G-HSD) may negatively impact health-related quality of life (HRQL) and daily functioning. EDS/G-HSD patients report unmet respiratory symptom management needs that are poorly understood.

OBJECTIVES

1) characterize respiratory symptoms and their associations with HRQL, physical activity, and patient-reported outcomes in EDS/G-HSD; and 2) explore respiratory symptom management needs and their impact on daily function.

METHODS

We conducted a mixed-methods study at the GoodHope EDS Clinic with EDS or G-HSD participants who reported respiratory symptoms or a respiratory condition. Patient-reported outcomes, Fitbit-measured physical activity, and qualitative interviews were undertaken to assess dyspnea severity, HRQL, fatigue, sleep quality, and mental and physical function.

RESULTS

Moderate to severe dyspnea (MRC ≥ 2) was reported by 74.5% of participants (n = 35/47). Dyspnea (MRC ≥ 2) was associated with lower Short Form-36 physical component score (-16.9 points [-23.4 to -10.3], p < 0.001), greater fatigue severity score (11.3 [4.7 to 18.0], p = 0.014), and reduced functional capacity on the Duke Activity Status Index (-14.6 [-23.4 to -5.8], p=0.002). Over half of the participants (12/21, 57%) demonstrated sedentary activity levels (<5000 median steps/day). Qualitative interviews revealed dyspnea-related limitations with daily activities and social participation, with patients reporting a "cycle of inactivity" driven by symptom burden.

CONCLUSION

Dyspnea is prevalent in EDS/G-HSD and is associated with reduced physical function and HRQL. These findings highlight the need to systematically assess respiratory symptoms through interdisciplinary care in this population.