Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type

  title={Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type},
  author={Alan J Hakim and Chris O'Callaghan and Inge De Wandele and Lauren E. Stiles and Alan G. Pocinki and Peter C. Rowe},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  pages={168 - 174}
  • A. Hakim, C. O'Callaghan, P. Rowe
  • Published 1 March 2017
  • Medicine
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS. [] Key Method Tests of cardiovascular function range from clinic room observation to tilt-table assessment to other laboratory investigations such as supine and standing catecholamine levels. Non-pharmacologic treatments include education, managing the environment to reduce exposure to triggers, improving cardiovascular fitness, and maintaining hydration. Although there…

Dysautonomia in the Ehlers-Danlos syndromes and hypermobility spectrum disorders-With a focus on the postural tachycardia syndrome.

This paper reviews neurocardiovascular dysautonomia with an emphasis on postural tachycardia syndrome (PoTS), its characteristics, associations, pathophysiology, investigation, and treatment.

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

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.

Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

A reduction in physical activity is observed following the onset or significant flare of hEDS/HSD, most strikingly noting the proportion of dysautonomic patients with sedentary lifestyle, which increased from 44% to 85%.

Increased prevalence of autonomic dysfunction due to postural orthostatic tachycardia syndrome in patients with eosinophilic gastrointestinal disorders.

The prevalence of autonomic dysfunction was 5-10-fold higher in EGID than expected in the general population, suggesting an association between the two conditions, though the underlying mechanism is unclear.

Systemic manifestations of Ehlers-Danlos syndrome

A better understanding of Ehlers-Danlos syndrome is provided to promote earlier and more accurate diagnoses to guide treatment and prevent complications and to investigate the demographic characteristics and systemic manifestations in EDS.

Respiratory manifestations in the Ehlers–Danlos syndromes

There is a need for careful phenotyping using standardized clinical tools and patient‐reported outcomes and continuing collaboration with aerodigestive specialists including otolaryngologists and gastroenterologists for interpretation and long‐term management of respiratory symptoms.

Postural Orthostatic Tachycardia Syndrome: Prevalence, Pathophysiology, and Management

The framework highlights the overlap among the five main subtypes of POTS based on its pathophysiology (neuropathic, hypovolemic, primary hyperadrenergic, joint-hypermobility-related, and immune-related).

Chronic Fatigue Syndrome through Postural Orthostatic Tachycardia Syndrome to Hypermobile Ehlers Danlos Syndrome: a journey through unclear diagnoses

The collaboration of patient, family and physician further refined the diagnosis as arising from Postural Orthostatic Tachycardia Syndrome and eventually Ehlers Danlos Syndrome.

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders

Correct classification of patients with JH-related disorders needs a systematic approach, in which a wide array of molecular tests should be intermingled with strong clinical competences in highly specialized settings.



Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome.

Postural tachycardia syndrome—current experience and concepts

The characteristics and neuroepidemiology of PoTS are described, and possible pathophysiological mechanisms of this syndrome are outlined, as well as current and investigational treatments.

Dysautonomia in the joint hypermobility syndrome.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

OI is an important determinant of fatigue in EDS-HT, and the factors OI, pain, affective distress, decreased physical activity and sedative use explained 47.7% of the variance in fatigue severity.

EFNS guidelines on the diagnosis and management of orthostatic hypotension

Evidence based guidelines for the diagnostic workup and the therapeutic management (non‐pharmacological and pharmacological) are provided based on the EFNS guidance regulations.

Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes

The “pouching” shape of the SV was more common in hypermobile type than in the classical type of EDS, and 26/38 subjects demonstrated a prominent right coronary artery easily visualized by trans‐thoracic echocardiography, and 10/38 had an elongated cardiac silhouette on the 4‐chamber apical views.

Ehlers–Danlos Syndrome and Postural Tachycardia Syndrome: A relationship study

Orthostatic intolerance in the chronic fatigue syndrome.