The Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue diseases characterized by the joint hyperlaxity, skin hyperextensibility and tissue fragility. In these patients coexist a multisystem disorder, such as chronic pain syndromes, urinary symptoms, and anxiety disorders and gastrointestinal (GI) symptoms. Several studies showed the high prevalence of functional gastrointestinal disorders (FGID) in EDS, especially in the hypermobility subtype, which meet the criteria for the diagnosis of Disorder of Gut-Brain Interaction (DGBI). Therefore, the aim of this study is to determine the prevalence of Gl symptoms in patients with hypermobile EDS (hEDS). MATERIAL AND METHODS We conducted a prospective study including hEDS patients referred to tertiary centers between 2017 and 2023. All patients completed the Italian version of the Rome III (used during the observation period) or Rome IV questionnaire to assess both proximal and distal GI symptoms. When available, manometric evaluation was also performed in these patients in relation to the GI symptoms presented. RESULTS We enrolled 29 hEDS patients (all females, mean age: 39.4 ± 10 years). Analysis of the questionnaire showed that all patients reported at least one GI symptom. The most frequent symptoms were postprandial fullness (75%), bloating and abdominal pain (86%), incomplete evacuation (72%) and heartburn (62%). Three patients (both affected by constipation and sensation of incomplete evacuation) underwent high resolution anorectal manometry, and in both cases, a condition of abdomino-pelvic dyssynergia was detected, while three patients underwent high resolution esophageal manometry without highlighting significant alterations. CONCLUSIONS Some papers reported a greater prevalence of these disorders in hEDS patients compared to a control group or patients with organic GI diseases. The pathogenesis of functional gastrointestinal involvement has not yet been clarified but it is probably attributed to dysautonomia, frequently detected in these patients, or to alterations of the extracellular matrix. While, some some evidence suggests that the anorectal pressure profile is not impaired by connective tissue disorders. In this study, we confirm the relationship between DGBI and hEDS, as suggested by the literature. Further work is needed to understand the impact of connective tissue disorders on GI symptoms.
THE PREVALENCE OF DISORDER OF GUT-BRAIN INTERACTION IN THE EHLERS DANLOS SYNDROME / Mocci, Chiara; Cozza, Giulio; Ribichini, Emanuela; Severi, Carola; Faggiani, Roberto; Badiali, Danilo; D’Alba, Lucia. - (2025). (Intervento presentato al convegno 31° CONGRESSO NAZIONALE DELLE MALATTIE DIGESTIVE FISMAD 2025 tenutosi a Roma).
THE PREVALENCE OF DISORDER OF GUT-BRAIN INTERACTION IN THE EHLERS DANLOS SYNDROME
Chiara Mocci;Giulio Cozza;Emanuela Ribichini;Carola Severi;Danilo Badiali;
2025
Abstract
The Ehlers-Danlos Syndrome (EDS) is a group of hereditary connective tissue diseases characterized by the joint hyperlaxity, skin hyperextensibility and tissue fragility. In these patients coexist a multisystem disorder, such as chronic pain syndromes, urinary symptoms, and anxiety disorders and gastrointestinal (GI) symptoms. Several studies showed the high prevalence of functional gastrointestinal disorders (FGID) in EDS, especially in the hypermobility subtype, which meet the criteria for the diagnosis of Disorder of Gut-Brain Interaction (DGBI). Therefore, the aim of this study is to determine the prevalence of Gl symptoms in patients with hypermobile EDS (hEDS). MATERIAL AND METHODS We conducted a prospective study including hEDS patients referred to tertiary centers between 2017 and 2023. All patients completed the Italian version of the Rome III (used during the observation period) or Rome IV questionnaire to assess both proximal and distal GI symptoms. When available, manometric evaluation was also performed in these patients in relation to the GI symptoms presented. RESULTS We enrolled 29 hEDS patients (all females, mean age: 39.4 ± 10 years). Analysis of the questionnaire showed that all patients reported at least one GI symptom. The most frequent symptoms were postprandial fullness (75%), bloating and abdominal pain (86%), incomplete evacuation (72%) and heartburn (62%). Three patients (both affected by constipation and sensation of incomplete evacuation) underwent high resolution anorectal manometry, and in both cases, a condition of abdomino-pelvic dyssynergia was detected, while three patients underwent high resolution esophageal manometry without highlighting significant alterations. CONCLUSIONS Some papers reported a greater prevalence of these disorders in hEDS patients compared to a control group or patients with organic GI diseases. The pathogenesis of functional gastrointestinal involvement has not yet been clarified but it is probably attributed to dysautonomia, frequently detected in these patients, or to alterations of the extracellular matrix. While, some some evidence suggests that the anorectal pressure profile is not impaired by connective tissue disorders. In this study, we confirm the relationship between DGBI and hEDS, as suggested by the literature. Further work is needed to understand the impact of connective tissue disorders on GI symptoms.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
