P2A085: Impact of Dysautonomia on Quality of Life in Children with Ehlers-danlos Syndrome

Background: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations. Cardiovascular symptoms and dysautonomia are frequently reported in adults with hEDS and have been shown to have a negative impact on quality of life (QoL). However, there is scant literature on dysautonomia in pediatric patients with hEDS. This study aims to characterize cardiovascular symptoms in pediatric patients with hEDS and evaluate the impact of dysautonomia on QoL.

Methods: A retrospective chart review was performed at a tertiary pediatric center. Patients were included if they had a diagnosis of hEDS. They study took place between May 2022 and December 2022. Cardiovascular history and demographics were obtained, and patient-reported outcomes (PROs) were completed by the patients. These PROs included the Composite Autonomic Symptom Score (COMPASS-31), which evaluates autonomic symptoms; scores range between 0 to 100, with higher scores indicating worse dysautonomia, and the Patient Reported Outcomes Measurement Information System (PROMIS) Pediatric Profile version 2.0, which is a generic QoL measure. Higher PROMIS scores represent more of the domain of interest. The PROMIS measures were scored using a straight sum score from the raw values.

Results: Of 70 patients with hEDS there was a mean age of 15.8 (SD = 2.9), the majority were female (81%) and Caucasian (89%). The most common cardiovascular diagnoses were orthostatic intolerance (59%), dysautonomia (47%), and Postural Orthostatic Tachycardia Syndrome (POTS) (21%). Most patients (77%) had an echocardiogram, and the majority were normal (82%). No patients had mitral valve prolapse, and only one patient had mild aortic root dilation (Table 1). The average total PROMIS score was 3.1 (SD = 0.6), and the average total COMPASS-31 score was 41.9 (SD = 13.8). Higher sub-domain scores of the COMPASS-31 correlated with higher total PROMIS scores. The pupillomotor (r = 0.59, p = < 0.0001) and orthostatic intolerance (r = 0.47, p = < 0.0001) COMPASS-31 sub-domains had the highest correlations with total PROMIS score (Table 2.).

Conclusion: Cardiovascular symptoms are common in children with hEDS. This study shows that most children with hEDS have cardiovascular symptoms and dysautonomia that impact QoL. However, few have abnormal echocardiograms. This suggests that symptoms are due to dysautonomia rather than an anatomical abnormality. There was a strong correlation between the pupillomotor and orthostatic intolerance sub-domains of the COMPASS-31 and the PROMIS Pediatric Profile. These sub-domains may be considered as a proxy for QoL as it relates to cardiovascular symptoms, however, further investigation and validation is needed to confirm these findings. Cardiovascular symptoms are prevalent in children with hEDS, are most due to dysautonomia, and have a dramatic impact on QoL.