P3.012: Gastrointestinal Symptoms and their Impact on Quality of Life in Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome.

Background: Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common sub-type of the Ehlers-Danlos Syndromes with features such as joint hypermobility. While gastrointestinal (GI) symptoms are well studied in the adult population, there are few studies on pediatric patients with hEDS. This study aims to fill this knowledge gap by evaluating the impact of GI symptoms on quality of life (QoL) in pediatric patients with hEDS.

Methods: Study inclusion criteria included patients aged 22 and younger who were seen in a multidisciplinary rheumatology clinic between May and December 2022 with a diagnosis of hEDS. Information including demographics and GI history were collected through patient surveys and chart review. Patient-reported outcomes (PROs) including Pediatric Quality of Life Inventory Gastrointestinal Module (PEDS-QL Gastro) and Patient Reported Outcomes Measurement Information System Pediatric Profile Version 2 (PROMIS) were also evaluated. The PROMIS sub-scales T-Scores are reported, with higher values representing more of the domain of interest. In PEDS-QL Gastro, higher values indicate better QoL. Statistical Analysis was performed with descriptive statistics for demographics and symptoms. Pearsons Correlations were performed for the PROs. The institutional review board approved this study (ID: 00001628).

Results: A total of 232 patients met inclusion criteria with a mean age of 15.6 years (SD = 2.8). The majority of patients were female (91%). Many patients had a prior GI evaluation (61%). The most common GI symptoms were functional abdominal pain (69%), nausea (60%), constipation (41%), bloating (35%), and diarrhea (32%) (Table 1). The average total PEDS-QL Gastro score was 61.94 (SD = 16.80). Correlations were present between nearly all PROMIS and PEDS-QL Gastro sub-scales. Significant correlations were noted between the total PEDS-QL Gastro score and the PROMIS Depression (r = -0.497, p = < 0.0001), Fatigue (r = -0.528, p = < 0.0001), and Pain Interference Sub-scales (r = -0.510, p = < 0.0001) (Table 2).

Conclusion: Gastrointestinal evaluation and symptoms are common in the pediatric hEDS population with functional abdominal pain accounting for the majority of these symptoms. Not only are the GI symptoms prevalent, but they also have an impact on quality of life. Therefore, GI symptoms should be screened for and appropriately diagnosed and treated in patients with hEDS.