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Review
. 2018 Jul;33(7):1192-1195.
doi: 10.1007/s11606-018-4445-3. Epub 2018 Apr 26.

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

Bharat Maraj  1 , Emily Harding-Theobald  2 , Fatima Karaki  2
Affiliations
Review

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

Bharat Maraj et al. J Gen Intern Med. 2018 Jul.

Erratum in

Abstract

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.

Keywords: Ehlers-danlos; aneurysm; vascular.

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Conflict of interest statement

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

Figures

Figure 1.
Figure 1.
a Neck mass with overlying reticular rash. b Prominent varicose veins. c Easily identified veins suggestive of thin skin. d Interphalangeal joint hypermobility of the 1st digit. e Increased range of motion of shoulders.
Figure 2.
Figure 2.
CTA demonstrating a large pseudoaneurysm of the maxillary artery.
See this image and copyright information in PMC

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