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Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders
Author(s) -
Martinez Kiana L.,
Mauss Corina,
Andrews Jennifer,
Saboda Kathylynn,
Huynh Julie M.,
Sanoja Alejandro J.,
Jesudas Rohith,
Byers Peter H.,
Laukaitis Christina M.
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62197
Subject(s) - joint hypermobility , ehlers–danlos syndrome , hypermobility (travel) , medicine , asymptomatic , cohort , quality of life (healthcare) , spectrum disorder , disease , dysautonomia , physical therapy , psychiatry , surgery , nursing
The hypermobile Ehlers–Danlos syndrome (hEDS) GENE study is a multicenter, cohort study with the goal to identify genes associated with hypermobile EDS. Of the 148 people enrolled in the hEDS GENE study, 98 meet the 2017 hEDS criteria, 27 have a hypermobility spectrum disorder (HSD) and 23 are asymptomatic family members. More than 80% of participants are female with an average age of 41 years. Each participant has completed seven questionnaires to quantify disease‐related symptomatology. People with hypermobility experience a variety of physical and somatic symptoms, especially in the areas of fatigue, kinesiophobia, gastrointestinal, and autonomic function. These cause a significant decrease in health‐related quality of life. The frequency and severity of most symptoms were indistinguishable between participants with hEDS and HSD; however, there were significant differences in autonomic symptoms. Less than 20% of participants had autoantibodies known to be associated with dysautonomia. Subtle symptomatic differences in people meeting the 2017 diagnostic criteria suggest focusing further etiologic studies on autonomic pathways.