Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD)

What are EDS and HSD?

 

Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD) are a group of inherited connective tissue disorders, caused by various defects in the synthesis of collagen. EDS and HSD are known to affect men and women of all socioeconomic, racial and ethnic backgrounds. They are in a class of genetic disorders that are present at birth but can often go unrecognized for years, even decades.  Patients often present with a "constellation of symptoms" as they age that make this elusive syndrome difficult for the untrained eye to recognize.

Nearly all types of EDS and HSD share the symptoms of hypermobility and joint laxity.  Many types of types of EDS also share the following symptoms: soft skin; easy bruising; and some systemic (widespread) manifestations in the tissue, vascular system, and organs - including autonomic dysfunction.  Each type can cause minor to serious deficits in joint, tissue, organ and skin integrity and may impact patients' overall quality of life.  Diagnosis includes a Beighton test (depicted below) to asses hypermobility, a thorough patient and family history, and genetic testing.  Classification is based-on the 2017 International Classifications from the Ehlers-Danlos Society.

Expanded classifications include 14 distinct types of Ehlers-Danlos syndromes as well as the newly defined hypermobility spectrum disorders.  Each type is thought to involve a unique defect in connective tissue, although not all of the genes responsible for causing EDS have been found.  Life expectancy is shortened with a majority of individuals living only into their forties with vascular type (vEDS), the most serious form of EDS. The gene for the hypermobile type (hEDS) has yet to be identified. Current research is focused on identifying these still unidentified genetic defects.  For questions about the new classifications, see the EDS Society's 2017 Classification FAQ.

​Strategic, customized exercise programs, an informed and skilled medical team, adequate pain management and proper protection of fragile joints and organs are essential for good outcomes!

 

What does EDS have to do with Dysautonomia?

Studies have found that EDS is associated with dysautonomia including OI and POTS.  One such study - from the Oxford University Press - explains OI was prevalent in hEDS (EDS: 74.4%, control: 34.3%, p = 0.001), and frequently expressed as POTS (41.0% of the EDS group).  Patients in this study responded to tilt with a higher heart rate and lower total peripheral resistance (p < 0.001; p = 0.032). This altered response correlated with fatigue in daily life (CIS). In the hEDS group, tilt provoked significantly more fatigue (numeric rating scale increase: EDS: +3.1 (1.90), controls: +0.5 (1.24), p < 0.001); finding that OI is an important determinant of fatigue in hEDS.

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Source:  http://rheumatology.oxfordjournals.org/content/early/2016/04/18/rheumatology.kew032.abstract 

More studies can be found in the EDS section of the Journal Articles page of the DSN Library.