Resource Details

What to do when you suspect Ehlers-Danlos Syndrome – a practical guide

02/12/2021 6:32pm
Mountain States Regional Genetics Network (MSRGN)

Joint hypermobility syndrome/Hypermobile Ehlers–Danlos syndrome (JHS/hEDS) represents a multi-faceted disorder frequently encountered in the primary care setting. Hypermobile EhlersDanlos syndrome (hEDS) is also known as the hypermobility type or type 3 EDS.

Generalized joint hypermobility (GJH) commonly occurs without the other necessary features of JHS/hEDS. GJH is estimated to affect 10 to 20% of the general population, although a wide
variation exists. Many individuals with GJH are asymptomatic. GJH diminishes with age and is about three times more common in females than males. JHS/hEDS is by far the most common among the currently 14 types of EDS and international
diagnostic criteria have been proposed, most recently in 2017 (Malfait et al. 2017). Many patients with mild to moderate hypermobility can be diagnosed and treated by the primary
care provider. Referral for specialist consultation may be considered in certain cases.

This document is intended to assist the primary care provider in diagnosing JHS/hEDS and determining whether to request a consultation for evaluation for a connective tissue disorder,
specifically the Ehlers-Danlos Syndromes. It also includes recommendations for interventions and evaluations that may be helpful to implement prior to the genetics consultation. Hopefully,
this document will also help clarify the scope and role of the primary care provider in diagnosis and management of JHS/hEDS.


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