Research Article Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? Claudia Celletti, 1 Filippo Camerota, 1 Marco Castori, 2 Federica Censi, 3 Laura Gioffrè, 4 Giovanni Calcagnini, 3 and Stefano Strano 4 1 Physical Medicine and Rehabilitation, Umberto I Hospital, Rome, Italy 2 Unit of Clinical Genetics, San Camillo-Forlanini Hospital, Rome, Italy 3 Department of Cardiovascular, Dysmetabolic and Aging-Associated Diseases, Italian Institute of Health, Rome, Italy 4 Department of Heart and Great Vessels “A. Reale”, Sapienza University of Rome, Rome, Italy Correspondence should be addressed to Claudia Celletti; clacelletti@gmail.com Received 31 October 2016; Revised 16 January 2017; Accepted 19 January 2017; Published 12 February 2017 Academic Editor: Ramazan Akdemir Copyright © 2017 Claudia Celletti et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connec- tive tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. Tis study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. Te response to cardiovascular refex 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 fnish 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 signifcant higher barorefex sensitivity values at rest compared to controls. Conclusions. Tis study confrms the abnormal cardiovascular autonomic profle in adults with JHS/EDS-HT and found the higher barorefex sensitivity as a potential disease marker and clue for future research. 1. Introduction Ehlers-Danlos syndrome (EDS) is an umbrella term for a group of heritable sof connective tissue disorders mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular fragility or dysfunc- tions [1]. Current nosology identifes six major EDS variants, with the classical, hypermobility, and vascular types being the most common [1]. More recently, diferent studies suggested and partly demonstrated a clinical overlap between EDS, hypermobility type (EDS-HT), and the joint hypermobility syndrome (JHS) [2, 3]. JHS is to date defned as an underdiag- nosed rheumatologic condition showing generalized joint hypermobility, chronic musculoskeletal pain, and additional fndings and presenting a common familial aggregation [4]. Te diagnosis of EDS is confrmed by molecular tools in most types except for EDS-HT and the cognate JHS, both remaining clinical diagnoses based on available criteria [4, 5]. At the moment, the prevalent opinion is to provisionally consider JHS and EDS-HT a single entity (i.e., JHS/EDS- HT) [2]. In JHS/EDS-HT, generalized joint hypermobility with recurrent joint dislocations and chronic moderate to severe pain were the most frequent and severe complaints, but also muscle cramps, tendinitis, headache, and fatigue are fre- quently reported [6]. Impaired proprioception, postural con- trol, and muscular strength are factors that may contribute to joint instability [7]. Te clinical spectrum associated with JHS/EDS-HT is not limited to the musculoskeletal Hindawi Publishing Corporation BioMed Research International Volume 2017, Article ID 9161865, 7 pages http://dx.doi.org/10.1155/2017/9161865