Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Kiana L. Martinez, Corina Mauss, Jennifer Andrews, Kathylynn Saboda, Julie M. Huynh, Alejandro J. Sanoja, Rohith Jesudas, Peter H. Byers, Christina M. Laukaitis

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2012-2025
Number of pages14
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number7
DOIs
StatePublished - Jul 2021

Keywords

  • dysautonomia
  • fatigue
  • gastrointestinal
  • hypermobile Ehlers–Danlos syndrome (hEDS)
  • kinesiophobia
  • pain

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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