title: Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?
abstract: Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests.Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group.Results. Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls.Conclusions.This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.
authors.affiliation: Physical Medicine and Rehabilitation, Umberto I Hospital, Rome, Italy.
authors.forename: Claudia
authors.identifier: 0000-0001-7154-5882
authors.initials: C
authors.lastname: Celletti
authors.affiliation: Physical Medicine and Rehabilitation, Umberto I Hospital, Rome, Italy.
authors.forename: Filippo
authors.identifier: 0000-0002-0268-4026
authors.initials: F
authors.lastname: Camerota
authors.affiliation: Unit of Clinical Genetics, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.affiliation: Department of Cardiovascular, Dysmetabolic and Aging-Associated Diseases, Italian Institute of Health, Rome, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Censi
authors.affiliation: Department of Heart and Great Vessels "A. Reale", Sapienza University of Rome, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Gioffrè
authors.affiliation: Department of Cardiovascular, Dysmetabolic and Aging-Associated Diseases, Italian Institute of Health, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Calcagnini
authors.affiliation: Department of Heart and Great Vessels "A. Reale", Sapienza University of Rome, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Strano
mesh_terms: D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000503:physiopathology*; D017704:Baroreflex; D004535:Ehlers-Danlos Syndrome / Q000503:physiopathology*; D005260:Female; D018737:Hand Strength; D006801:Humans; D007593:Joint Instability / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000503:physiopathology*; D054972:Postural Orthostatic Tachycardia Syndrome / Q000503:physiopathology*