BACKGROUND AND OBJECTIVES: Ehlers-Danlos syndromes (EDS) are a heterogeneous 
group of heritable connective tissue disorders. Gastrointestinal manifestations 
in EDS have been described but their frequency, nature and impact are poorly 
known. We aimed to assess digestive features in a national cohort of EDS 
patients.
METHODS: A questionnaire has been sent to 212 EDS patients through the French 
patient support group, all of which had been formally diagnosed according to the 
Villefranche criteria. The questionnaire included questions about digestive 
functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index), KESS 
scoring system and the Rome III criteria.
RESULTS: Overall, 135 patients (64% response rate) completed the questionnaire 
and 134 were analyzable (123 women; 91%). Mean age and Body Mass Index were 
respectively 35±14.7 years and 24.3±6.1 kg/m(2). The most common EDS subtype was 
hypermobility form (n=108; 80.6%). GIQLI and KESS median values were 
respectively 63.5 (27-117) and 19 [13.5-22]. Eighty four percent of patients had 
functional bowel disorders (FBD) according to the Rome III criteria. An 
irritable bowel syndrome according to the same criteria was observed in 64 
patients (48%) and 48 patients (36%) reported functional constipation. A 
gastro-esophageal reflux disease (GERD) was reported in 90 patients (68.7%), 
significantly associated with a poorer GIQLI (60.5±16.8 versus 75.9±20.3; 
p<0.0001). GIQLI was also negatively impacted by the presence of an irritable 
bowel syndrome or functional constipation (p=0.007). There was a significant 
correlation between FBD and GERD.
CONCLUSIONS: Natural frequency of gastrointestinal manifestations in EDS seems 
higher than previously assessed. FBD and GERD are very common in our study 
population, the largest ever published until now. Their impact is herein shown 
to be important. A systematic clinical assessment of digestive features should 
be recommended in EDS.