Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome

Gastroenterology Research and Practice
N InayetA Poullis

Abstract

Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs). The aim of this study is to determine the prevalence of gastrointestinal symptoms in patients with Marfan syndrome and hypermobile EDS. Patients with a diagnosis of either MS or hEDS attending cardiology or rheumatology outpatients at our hospital were asked to complete SF36 RAND and Rome IV Diagnostic questionnaires. Questionnaires were also completed by patients who are members of Marfan Association UK. The same questionnaires were also completed by age- and gender-matched controls attending fracture clinic without existing diagnoses of MS or hEDS. Data were collected from 45 MS patients (12 males and 33 females, age range 19-41 years, mean 28 years) and 45 hEDS patien...Continue Reading

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Citations

Sep 25, 2020·Children·Estée C H FeldmanRachel Neff Greenley
Jun 19, 2020·World Journal of Gastrointestinal Pharmacology and Therapeutics·Nashiz InayetAndrew Poullis
Jun 12, 2021·Medicina clínica·Antonio José Ruiz-RodríguezAlberto Benavente Fernández
Jul 9, 2021·Journal of Psychosomatic Research·Grant ChenRichard A Kanaan

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Methods Mentioned

BETA
dissection

Software Mentioned

Statistical Package for the Social Science ( SPSS )

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