• Kiana L Martinez, Corina Mauss, Jennifer Andrews, Kathylynn Saboda, Julie M Huynh, Alejandro J Sanoja, Rohith Jesudas, Peter H Byers, and Christina M Laukaitis.
• Genetics Graduate Interdisciplinary Program, University of Arizona, Tucson, Arizona, USA.
• Am. J. Med. Genet. A. 2021 Jul 1; 185 (7): 2012-2025.

AbstractThe 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.© 2021 Wiley Periodicals LLC.

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