An unusual presentation of Ehlers–Danlos syndrome vascular type with deep vein thrombosis: A case for multidisciplinary management

• Published in: American journal of medical genetics. Part A Vol. 149A; no. 4; pp. 698 - 701
• Main Authors: Lipinski, Michael J., Lipinski, Shawn E., Kripalani, Sanjay, Friesen, Lindsay D., Uthlaut, Brian S., Braddock, Stephen R.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.04.2009; Wiley-Liss
• Subjects: Aneurysm, False - complications; Aneurysm, False - diagnostic imaging; Aneurysm, False - pathology; Angiography; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Collagen Type III - genetics; deep vein thrombosis; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Ehlers-Danlos Syndrome - classification; Ehlers-Danlos Syndrome - complications; Ehlers-Danlos Syndrome - genetics; Ehlers-Danlos Syndrome - therapy; Ehlers–Danlos syndrome vascular type; Female; Humans; Magnetic Resonance Angiography; Medical genetics; Medical sciences; Mutation, Missense; pseudoaneurysm; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Tibial Arteries; Tomography, X-Ray Computed; Venous Thrombosis - etiology; Young Adult; Skin disease; Ehlers-Danlos syndrome; Elastic tissue disease; False aneurysm; Diseases of the osteoarticular system; pseudoaneurysm; Deep vein thrombosis; Cardiovascular disease; Genetic disease; Venous disease; Vascular disease; Case study; Blood vessel; Systemic disease; Venous thrombosis; Ehlers-Danlos syndrome vascular type; Multidisciplinary
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32687

Ehlers–Danlos syndrome (EDS) vascular type typically presents with significant vascular complications such as rupture of blood vessels, gravid uterus, or intestinal perforation. We report on a 24‐year‐old female that presents with deep vein thrombosis found to be due to compression by a large posterior tibial artery pseudoaneurysm which ultimately leads to the patient's diagnosis. This case highlights the need for a multidisciplinary approach involving vascular surgery, internal medicine, genetics, and other health care providers for patients with vascular type EDS. © 2009 Wiley‐Liss, Inc.