• Medientyp: E-Artikel
  • Titel: The prevalence and impact of orthostatic intolerance in young women across the hypermobility spectrum
  • Beteiligte: Peebles, Karen C.; Tan, Isabella; Butlin, Mark; Collins, Felicity; Tofts, Louise; Avolio, Alberto P.; Pacey, Verity
  • Erschienen: Wiley, 2022
  • Erschienen in: American Journal of Medical Genetics Part A
  • Sprache: Englisch
  • DOI: 10.1002/ajmg.a.62705
  • ISSN: 1552-4833; 1552-4825
  • Schlagwörter: Genetics (clinical) ; Genetics
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Orthostatic intolerance (OI) is frequently reported in young women with generalized hypermobility spectrum disorder (G‐HSD) and hypermobile EDS (hEDS). However, it remains currently unclear whether OI is a comorbidity or fundamental part of the pathophysiology of G‐HSD or hEDS. This study investigated the prevalence and impact of OI in young women across the hypermobility spectrum. Forty‐five women (14–30 years, 15 controls, 15 G‐HSD, and 15 hEDS) undertook a head‐up tilt (HUT) and active stand test. Postural Orthostatic Tachycardia Syndrome (POTS) and Orthostatic Hypotension (OH) were assessed using age‐related criteria. Autonomic dysfunction and quality‐of‐life questionnaires were also completed. The prevalence of POTS was higher in women with G‐HSD than hEDS and control groups during HUT (43% vs. 7% and 7%, respectively, <jats:italic>p</jats:italic> &lt; 0.05), but similar between groups during the active stand (47%, 27%, and 13% for G‐HSD, hEDS, and control, respectively). No participants had OH. hEDS and G‐HSD participants reported more severe orthostatic symptoms and poorer quality of life than controls. Although POTS was observed in hypermobile participants, there is no conclusive evidence that its prevalence differed between groups due to differences between the HUT and active stand assessments. Nevertheless, OI and broader autonomic dysfunction impacted on their quality of life.</jats:p>