Ehlers-Danlos Syndrome (EDS) : A Common and often Disregarded Cause of Serious Gastrointestinal Complications in Children and Adults
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Abstract
Ehlers-Danlos is a hereditary disease of the whole connective tissue initially described by dermatologists (Tscherchnogobov Moscow 1892, Ehlers, Copenhagen, 1900, Danlos, Paris, 1908). They emphasized the joint hyperlaxity and stretchiness of the skin which has long summed up the clinical expression of this entity. In recent decades, many other manifestations have been described and gradually identified, mainly by rheumatologists (Grahame, London, 1960). Several of them concern the digestive tract, mainly gastric reflux and constipation. They can be the cause of serious accidents: bronchial flooding by gastric reflux or aspiration, intestinal obstruction, hernial constriction, eventration, intestinal rupture, peritonitis of vesicular or appendicular origin, hemorrhages. It is important that gastroenterologists know how to link these manifestations to their etiology in order to adapt treatments, prevent iatrogenic accidents and direct the patients towards the treatment of other manifestations of Ehlers-Danlos disease. Nine clinical signs, including digestive manifestations, allow diagnosis by their significant grouping. The proof of hereditary origin is based on the identification of other identical cases in the family,, even if they are paucisymptomatic. A person affected by the disease systematically transmits the disease to all his children. We have verified this in all our patients.
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References
2-Beighton P., The Ehlers-Danlos syndrome in Mckusick’s Heritable Disorders of Connective Tissue (ed. By P. Beighton) 1993, pp. 189-251. University of Cape Town Medical School, Cape Town, South Africa.
3-Grahame R., Bird H.A., Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J.Rheumat. 2000;27:1777-9.
4-Bravo J.F. Ehlers-Danlos syndrome (EDS), with special emphasis in the joint hypermobility syndrome. January 2010. Revisa Medica de Chile 2009, vol.137, n.11,1488-1497.
5- Sabeeha M.•Emma J. Reinhold, •Gemma S. Pea rce, The Beighton Score as a measure of generalised joint hypermobility, Rheumatology Intern., March 2021, doi.1.
6-Berthoz A., Le sens du mouvement, Odile Jacob, Paris 2013.
7-Baeza-Velasco.C, Van den Bossche T Grossin D. Hamonet C., Difficulty eating and significant weight loss in Joint Hypermobility Ehlers–Danlos Syndrome, Hypermobility Type, Eat Weight Disord 2016 Jun;21(2):175-83.
8- Baeza-Velasco C, Lorente S, Tasa-Vinyals E, Guillaume S., Soledad Mora M., Espinoza P. Gastrointestinal and eating problems in women with Ehlers-Danlos syndrome, 2021 Feb 13. doi: 10.1007/s40519-021-01146-z. Online ahead of print.
9- Zeitoun J.D. Lefevre J.H., V. de Parades, C. Séjourné, I. Sobhani, B. Coffin, C. Hamonet, Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients, 2013 Nov 22;8(11):e80321. doi: 10.1371/journal.pone.0080321. eCollection 2013.
10-Hamonet C., Brissot R., Gompel A., Baeza-Velasco C., Guinchat V., Brock I., Ducret L., Pommeret S., Metlaine A. Ehlers-Danlos Syndrome - Contribution to Clinical Diagnosis - About 853 cases. EC Neurology 10.6 (2018)
11- Castori M., Morlino S., Pascolini G., Blundo C., Grammatico P., Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):54-75.
12 Kahn M.F., Syndromepolyalgique diffus, fibrosite, fibromyalgie. Doul. Et Analg., 1,158-164,1988.
13-Tinkle B., Castori M., Berglund B., Cohen H., Grahame R., Kazkaz H., Levy H., Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos type III and Ehlers-Danlos syndrome mobility type) : clinical description and natural history, American Journal of Medical Genetics Part 4 (Seminar in Medical Genetics) (2017).
14-Rapport 18-11. Bull. Acad. Natle Méd., 2018, 202, no 7, 1355-1370, séance du 9 octobre 2018.
15- Hamonet C., Manicourt,D., Hermanns-Le T., Pommeret S., Ehlers-Danlos. Clinical diagnosis, new fundamental perspectives. International Symposium on the Ehlers-Danlos Syndromes, Ghent (Belgium). September 26-29, 2018.
16- Schneider V., prévalence et sévérité des manifestations digestives du syndrome d’Ehlers-Danlos, hypermobile. Mémoire de maîtrise en médecine, Faculté de Biologie et de Médecine, Université de Louvain, 2017.
17- Grahame R. introduction of Ehlers-Danlos. La maladie oubliée par la médecine. C. Hamonet. Le Harmattan, Paris ,20.