Journal of General Internal Medicine

, Volume 33, Issue 7, pp 1192–1195 | Cite as

Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature

  • Bharat MarajEmail author
  • Emily Harding-Theobald
  • Fatima Karaki
Clinical Practice: Clinical Vignettes


Ehlers-Danlos syndrome refers to a spectrum of connective tissue disorders typically caused by mutations in genes responsible for the synthesis of collagen. Patients with Ehlers-Danlos syndrome often exhibit hyperflexibility of joints, increased skin elasticity, and tissue fragility. Vascular Ehlers-Danlos (vEDS) is a subtype of Ehlers-Danlos syndrome with a predilection to involve blood vessels. As such, it often manifests as vascular aneurysms and vessel rupture leading to hemorrhage. There are few reports describing primary prevention of aneurysms in the setting of undiagnosed, suspected vEDS. We present a case of a 30-year-old woman who presents with a pulsatile neck mass found to have multiple arterial aneurysms on imaging, hyperflexibility, and characteristic facial features consistent with vEDS. As described in this case, management of a suspected connective tissue disorder is a multidisciplinary approach including vascular surgery, medical therapy, and genetic testing to confirm the diagnosis. We review literature regarding the care of patients with vascular Ehlers-Danlos as it might pertain to hospitalized patients.


vascular Ehlers-danlos aneurysm 


Compliance with Ethical Standards

Conflict of interest

The authors declare that they do not have a conflict of interest.


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Copyright information

© Society of General Internal Medicine 2018
corrected publication August/2018

Authors and Affiliations

  • Bharat Maraj
    • 1
    Email author
  • Emily Harding-Theobald
    • 1
  • Fatima Karaki
    • 1
  1. 1.Department of Medicine University of California, San Francisco Medical CenterSan FranciscoUSA

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