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Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet C Semin Med Genet 2015; 169C(1):54-75AJ

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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

25821092

Citation

Castori, Marco, et al. "Gastrointestinal and Nutritional Issues in Joint Hypermobility syndrome/Ehlers-Danlos Syndrome, Hypermobility Type." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 169C, no. 1, 2015, pp. 54-75.
Castori M, Morlino S, Pascolini G, et al. Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet. 2015;169C(1):54-75.
Castori, M., Morlino, S., Pascolini, G., Blundo, C., & Grammatico, P. (2015). Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 169C(1), pp. 54-75. doi:10.1002/ajmg.c.31431.
Castori M, et al. Gastrointestinal and Nutritional Issues in Joint Hypermobility syndrome/Ehlers-Danlos Syndrome, Hypermobility Type. Am J Med Genet C Semin Med Genet. 2015;169C(1):54-75. PubMed PMID: 25821092.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. AU - Castori,Marco, AU - Morlino,Silvia, AU - Pascolini,Giulia, AU - Blundo,Carlo, AU - Grammatico,Paola, PY - 2014/09/15/received PY - 2014/12/22/accepted PY - 2015/3/31/entrez PY - 2015/3/31/pubmed PY - 2015/12/17/medline KW - Ehlers-Danlos syndrome KW - abdominal pain KW - constipation KW - diet KW - nutraceuticals SP - 54 EP - 75 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 169C IS - 1 N2 - 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. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/25821092/Gastrointestinal_and_nutritional_issues_in_joint_hypermobility_syndrome/Ehlers_Danlos_syndrome_hypermobility_type_ L2 - https://doi.org/10.1002/ajmg.c.31431 DB - PRIME DP - Unbound Medicine ER -