Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling

  • Candice Feben National Health Laboratory Service and University of the Witwatersrand
  • Jennifer Kromberg University of the Witwatersrand
  • Andrew McDonald Netcare Pretoria East Hospital
  • Amanda Krause National Health Laboratory Service and University of the Witwatersrand
Keywords: connective tissue, hereditary disorders, vascular rupture, genetic testing

Abstract

We present a case of a young female patient diagnosed clinically and molecularly with V-EDS and briefly review the published literature on this severe condition. Additionally, the case is used to highlight the need for early confirmation of diagnosis and appropriate referral to allow surveillance, intervention and genetic counselling.

Author Biographies

Candice Feben, National Health Laboratory Service and University of the Witwatersrand
Division of Human Genetics
National Health Laboratory Service; and
School of Pathology
Faculty of Health Sciences
University of the Witwatersrand
Jennifer Kromberg, University of the Witwatersrand
Division of Human Genetics
School of Pathology
University of the Witwatersrand
Andrew McDonald, Netcare Pretoria East Hospital

Alberts Cellular Therapy
Netcare Pretoria East Hospital

Amanda Krause, National Health Laboratory Service and University of the Witwatersrand
Division of Human Genetics
National Health Laboratory Service; and
School of Pathology
Faculty of Health Sciences
University of the Witwatersrand
Published
2018-09-19
How to Cite
Feben, C., Kromberg, J., McDonald, A., & Krause, A. (2018). Timely diagnosis of vascular Ehlers Danlos syndrome – the need for genetic testing and counselling. South African Journal of Surgery, 56(3), 67. Retrieved from http://sajs.redbricklibrary.com/index.php/sajs/article/view/2440
Issue
Vol 56 No 3 (2018)
Section
Case Reports

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