Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type

Abstract

Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently seen in hEDS. There is growing understanding of how hEDS-related physical and physiological pathology contributes to the development of these conditions. Evaluation of cardiovascular symptoms in hEDS should include a careful history and clinical examination. 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 are limited clinical trials, the response to drug treatments in hEDS is supported by evidence from case and cohort observational data, and short-term physiological studies. Pharmacologic therapy is indicated for patients with moderate-severe impairment of daily function and who have inadequate response or tolerance to conservative treatment. Treatment in hEDS often requires a focus on functional maintenance. Also, the negative impact of cardiovascular symptoms on physical and psycho-social well-being may generate a need for a more general evaluation and on-going management and support.

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

“…These factors can contribute to a delay in diagnosis and treatment, with some pediatric cohorts studied reporting 2–3 years from symptom onset to intervention (Adib, Davies, Grahame, Woo, & Murray, ). Management guidelines for adults with hEDS/HSD focus on symptomatic treatment with physical therapy and other interventions, with the goal to improve daily function and to prevent deconditioning (Chopra et al, ; Engelbert et al, ; Ericson & Wolman, ; Hakim, O'Callaghan, et al, ). However, there is no consensus for treatment of hEDS/HSD manifestations in the pediatric population, or which aspects of management to target to optimize quality of life.…”

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

“…Patients with hEDS may present with a number of comorbid features including widespread pain, orthostatic intolerance (OI) and/or postural orthostatic tachycardia syndrome (POTS) (Hakim et al, ), chronic headaches (Henderson et al, ), gastrointestinal (GI) dysfunction and functional disorders (Fikree, Chelimsky, Collins, Kovacic, & Aziz, ), mast cell activation syndrome (MCAS) (Seneviratne, Maitland, & Afrin, ), and psychological comorbidities such as depression and anxiety (Bulbena et al, ).…”

Ehlers–Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms

“…Postural hypotension is common in patients with AN and the occurrence of postural orthostatic tachycardia syndrome (POTS) in patients with AN has been described in the literature (Sachs, Harnke, Mehler, & Krantz, ). Importantly, cardiovascular autonomic dysfunction, including POTS, is also commonly seen in hEDS, although the causal mechanisms are unclear (Hakim et al, ).…”