Case Presentation: A 36-year-old woman with a past medical history of postural tachycardia syndrome (PoTS), seizure disorder, left ICA aneurysm status post embolization, presented due to short 30-second episodes of syncope with concurrent hypotension and bradycardia for the past few years. The patient had multiple episodes of bradycardia and hypotension requiring pressors. The physical exam was notable for joint hypermobility with a Beighton score of 5/9, multiple atrophic scars, hyper-elastic skin, blue sclera, and scoliosis. Labs were notable for TSH 4.06 uIU/mL, cortisol 9.5 mcg/dl, SSA/SSB negative, anti TTG: negative, normal kappa: lambda ratio, and normal SPEP. Imaging including MRI and CT of Chest and Abdomen/Pelvis were unremarkable. TTE with bubble study showed signs of a pulmonary shunt. Interdisciplinary discussions amongst cardiology, neurology and rheumatology resulted in the diagnosis of vascular EDS with dysautonomia. The patient experienced clinical improvement on midodrine and fludrocortisone. She was educated to maintain hydration and wear compression stockings as supportive therapy. She was discharged to follow up with cardiology and rheumatology with EDS genetic panel.
Discussion: EDS is a hereditary connective tissue disorder that most commonly affects collagen, in the skin, bones and tendons with some variants influencing vasculature. The overall prevalence of EDS is 1/5000 with Vascular EDS having a prevalence of 1/100,000–200,000. The differential includes other connective tissue disorders including Loeys-Dietz Syndrome or Marfan’s Syndrome. While hypermobility EDS is a clinical diagnosis, the vascular subtype of EDS warrants genetic testing for COL3A1 gene. Some screening methods utilize the Beighton Score, which integrates a 28 joint count of all 4 extremities with an assessment of passive movement at several different joints as well as active flexion/extension of the spine. The vascular variant of EDS is also associated with autonomic dysfunction, PoTS, and cardiac arrhythmias (due to conduction abnormalities). Our patients’ history of scoliosis, hyper-flexibility, autonomic dysfunction, and an ICA aneurysm suggest a vascular subtype of EDS. Patients with dysautonomia and/or PoTS associated with EDS should be managed in the same way as patients without EDS. Unfortunately, there are no specific interventions. Our patient’s symptoms were managed through the aforementioned treatments and genetic testing was also sent to further evaluate her clinical picture. Unfortunately, the life expectancy of individuals with vEDS is reduced due to the risk of severe vascular complications (mostly before 50 years).
Conclusions: 1. Know that the diagnosis of EDS is generally made clinically with as many as 13 different categories and that patients with suspected vascular types should receive genetic testing. 2. Recognize that there is no definitive treatment of EDS, but mostly symptomatic management.