Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type

Abstract

Gastrointestinal involvement is a well known complication of Ehlers-Danlos syndromes (EDSs), mainly in form of abdominal emergencies due to intestinal/abdominal vessels rupture in vascular EDS. In the last decade, a growing number of works investigated the relationship between a wide spectrum of chronic gastrointestinal complaints and various EDS forms, among which the hypermobility type (a.k.a. joint hypermobility syndrome; JHS/EDS-HT) was the most studied. The emerging findings depict a major role for gastrointestinal involvement in the health status and, consequently, management of JHS/EDS-HT patients. Nevertheless, fragmentation of knowledge limits its impact on practice within the boundaries of highly specialized clinics. In this paper, literature review on gastrointestinal manifestations in JHS/EDS-HT was carried out and identified papers categorized as (i) case-control/cohort studies associating (apparently non-syndromic) joint hypermobility and gastrointestinal involvement, (ii) case-control/cohort studies associating JHS/EDS-HT and gastrointestinal involvement, (iii) case reports/series on various gastrointestinal complications in (presumed) JHS/EDS-HT, and (iv) studies reporting gastrointestinal features in heterogeneous EDS patients' cohorts. Gastrointestinal manifestations of JHS/EDS-HT were organized and discussed in two categories, including structural anomalies (i.e., abdominal/diaphragmatic hernias, internal organ/pelvic prolapses, intestinal intussusceptions) and functional features (i.e., dysphagia, gastro-esophageal reflux, dyspepsia, recurrent abdominal pain, constipation/diarrhea), with emphasis on practice and future implications. In the second part of this paper, a summary of possible nutritional interventions in JHS/EDS-HT was presented. Supplementation strategies were borrowed from data available for general population with minor modifications in the light of recent discoveries in the pathogenesis of selected JHS/EDS-HT features.

A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT)

“…More recently the breadth of symptoms have been found to include: Postural Orthostatic Tachycardic Syndrome, gastrointestinal disorders, fatigue and Development Coordination Disorder (Castori, Morlino, Pascolini, Blundo, & Grammatico, 2015; Clark, Khattab, & Carr, 2014; Farmer & Aziz, 2010). The clinical presentation of JHS/EDS-HT is complex, often impacting on a person’s daily activity, family life, social and employment opportunities.…”

Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases

“…positional orthostatic tachycardia, chronic fatigue, etc. ), abnormal proprioception, headaches, and gastrointestinal dysmotility, which may lead to nutritional deficits123456. Many of those with HEDS also suffer from mood disorders, including depression and anxiety2478.…”

Gastrointestinal Manifestations of Marfan Syndrome

“…Functional gastrointestinal symptoms in several connective tissue diseases have been widely reported [11], [40]- [44] but there is limited information on the prevalence of these symptoms in Marfan syndrome. An understanding of the prevalence and pathophysiology of these functional disorders may give insight into the cause of irritable bowel syndrome in patients without connective tissue disorders.…”