Abstract
Background and ObjectivesEhlers-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.MethodsA 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.ResultsOverall, 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/m2. 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.ConclusionsNatural 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.
Highlights
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders mainly characterized by joint hypermobility, skin hyperextensibility and tissue fragility [1]
We have shown that the frequency of functional gastrointestinal manifestations in EDS was highly prevalent, much higher than previously assessed
irritable bowel syndrome (IBS), functional constipation and gastro-esophageal reflux disease (GERD) were present in respectively 48%, 36% and 79% of our study population, the largest ever published until now
Summary
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders mainly characterized by joint hypermobility, skin hyperextensibility and tissue fragility [1]. It was described at the beginning of the 20th century by two dermatologists, Edvard Ehlers and Henri-Alexandre Danlos [2,3]. The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index), KESS scoring system and the Rome III criteria. Eighty four percent of patients had functional bowel disorders (FBD) according to the Rome III criteria. FBD and GERD are very common in our study population, the largest ever published until now Their impact is shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS
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