scholarly journals Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Claudia Celletti ◽  
Filippo Camerota ◽  
Marco Castori ◽  
Federica Censi ◽  
Laura Gioffrè ◽  
...  
Keyword(s):  
Spectral Analysis ◽  
Baroreflex Sensitivity ◽  
Orthostatic Intolerance ◽  
Joint Hypermobility ◽  
Tilt Test ◽  
Postural Orthostatic Tachycardia Syndrome ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

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.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers‐Danlos syndrome from benign joint hypermobility syndrome in patients

2014 ◽  
Vol 28 (11) ◽  
pp. 4668-4676 ◽  
Author(s):  
Rie Harboe Nielsen ◽  
Christian Couppé ◽  
Jacob Kildevang Jensen ◽  
Morten Raun Olsen ◽  
Katja Maria Heinemeier ◽  
...  
Keyword(s):  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Tendon Stiffness ◽  
Benign Joint Hypermobility Syndrome ◽  
Danlos Syndrome

scholarly journals Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Trinh Hermanns-Lê ◽  
Marie-Annick Reginster ◽  
Claudine Piérard-Franchimont ◽  
Philippe Delvenne ◽  
Gérald E. Piérard ◽  
...  
Keyword(s):  
Clinical Parameter ◽  
Joint Hypermobility ◽  
Elastic Fibers ◽  
Hypermobility Syndrome ◽  
Beighton Score ◽  
Joint Hypermobility Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Transmission Electron ◽  
Asymptomatic Subjects ◽  
Danlos Syndrome

The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

scholarly journals A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder

2020 ◽  
Vol 90 (2) ◽  
Author(s):  
Claudia Celletti ◽  
Beatrice Borsellino ◽  
Marco Castori ◽  
Federica Censi ◽  
Giovanni Calcagnini ◽  
...  
Keyword(s):  
Baroreflex Sensitivity ◽  
Orthostatic Intolerance ◽  
Autonomic Regulation ◽  
Spectrum Disorder ◽  
Postural Tachycardia Syndrome ◽  
Management Approach ◽  
Postural Orthostatic Tachycardia Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Head Up Tilt ◽  
Danlos Syndrome

There is an association between joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS) and different forms of orthostatic intolerance. Objective: to explore autonomic profile in a large cohort of adults with hEDS and hypermobility spectrum disorder (hEDS/HSD) with a multimodal approach. In this observational retrospective study, heart rate, blood pressure and baroreflex sensitivity were estimated in 102 hEDS/HSD subjects during deep breathing, Valsalva maneuver, standing up: 30-15 ratio, Head-Up Tilt and sustained handgrip. Abnormal results and head-up tilt test were common and included postural orthostatic tachycardia syndrome (POTS; 48%), orthostatic intolerance (25.5%) and hypotension (3.9%). Baroreflex sensitivity was significantly different in individuals with POTS compared to the others. This study confirms the high rate and heterogeneity of abnormal autonomic regulation in hEDS/HSD, and suggests the baroreflex sensitivity might distinguish comorbid POTS from other profiles in this subgroup of patients. Abnormal autonomic regulation is common in adults with hEDS/HSD and should be regularly assessed for tailoring the management approach.

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