The Rheumatological point of view of EDS Syndromes: Articular manifestations

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Register to the ERN ReCONNET live webinar for healthcare professionals “The Rheumatological point of view of EDS Syndromes: Articular manifestations” by professor Maurizio Cutolo (University of Genoa).

24th July 2020 at 2:00 PM (CET) → Register here

How to recognize the Ehlers-Danlos (EDS ) syndromes through articular symptoms? Among the 13 EDS subtypes actually described, 12 of them can be confirmed with genetic testing, therefore the majority of subtypes of EDS are indeed quite rare, sometimes only one case out of every 1 million people. Converserly, it is not know which genes cause the most common type of EDS full of articular manifestations, namely the hypermobile EDS (hEDS.) To diagnose hEDS, doctors rely on history and mainly an articular physical examination. Interestingly, experts now realize EDS is much more common than they thought. It’s estimated that as many as 1 out of every 3,000 people (mainly young subjects) have hEDS, the most common subtype (95%). By considering such young population, individuals with joint pain and tendency to subluxations must be carefully considered to exclude the presence of the hEDS subtype. However, the Beighton scoring system offer a detailed clinical approach to diagnose the hEDS at any age.  As matter of fact, the Beighton score is a set of manoeuvres used to judge if there is evidence of joint hypermobility. There are 9 points, and a score of 4 or more is considered a sign of there likely being generalised joint hypermobility present. Of course, the articular manifestations must be carefully investigated and eventually differentiated rom other conditions adding other biomarkers, including tests to exclude an arthritis linked to rheumatic fever, recent or chronic joint traumatism, metabolic bone disorders, and skeletal abnormalities. In addition, further physical signals common to all EDS subtypes that include fragile skin, cardiovascular abnormalities (i.e. mitral valve prolapse), ocular and dental disorders and others, must be searched to complete the diagnosis of hEDS. Finally, some care on correct diet and proper physical activities, can optimize the management of the hEDS patients in order to better protect and restore eventual deficiencies, especially with the target to preserve the articular function.

Maurizio Cutolo is Full professor of Rheumatology at University of Genoa – IRCCS San Martino Polyclinic. Director Research Laboratories and Academic Division of Rheumatology, Director Postgraduate School of Rheumatology, Deputy Chair of Department of Internal Medicine @ University of Genoa. Chairman Board Classrooms of the EULAR School of Rheumatology (ESoR) and Deputy-Chair of ERN ReCONNET, prof. Cutolo is former President of the European League Against Rheumatism (EULAR) and Former Chairman of the International League of Associations for Rheumatology (ILAR). Former VPresident of the International Society for NeuroimmunoModulation (ISNIM) and VPresident of the Italian Society for Rheumatology. Honorary member of Russian, Hungarian Society of Rheumatology and EULAR. Doctor Honoris Causa of the University of Bucharest. Basic/clinical research include, basic mechanisms of DMARDs in rheumatoid arthritis, systemic sclerosis, nailfold videocapillaroscopy in rheumatic diseases, neuroendocrine immunology, endocrine system of vitamin D, glucocorticoids and chronotherapy of rheumatoid arthritis.


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