Vascular Ehlers-Danlos Syndrome

The diagnosis of vEDS is very important to those with the condition as it allows proper management and for the correct medical care to be received. It is also important for your mental health as it encourages acceptance.

Getting the diagnosis of vEDS can be difficult if there isn’t already a known family history of the condition. Some people get diagnosed due to their medical history linking to vEDS, as well as their physical appearance. However, many of these symptoms can be commonly seen in the general population so if there aren’t many symptoms being presented it could be thought as a one-off or a less severe condition. Many of the symptoms of vEDS also cross other with other medical conditions such as Loeys-Dietz syndrome, Marfan syndrome, fibromyalgia and chronic fatigue syndrome. Because of this, it often isn’t until the patient has a medical emergency that vEDS is even considered. Sometimes, it isn’t discovered until post-mortem. Additionally, as children do not often present vEDS symptoms they can go undiagnosed until adulthood.

For many people, the diagnosis of vEDS can take a very long time and can be very complex. Not many medial professionals are aware of the condition due to its rarity, so it often goes undiagnosed for a long time. The average age of diagnosis due to major complication is 30 years old (Pepin et al., 1999).

Diagnosis is often based on medical history, physical features, and non-invasive imaging, but it cannot be confirmed until a genetic test identifying a mutation in the COL3A1 gene and possibly a skin biopsy identifying abnormal type III procollagen is performed. Collagen is a fibre-like protein that is very prevalent in the body.

The diagnosis of vEDS is not only important for you, but for your family as well. As the condition is an autosomal dominant trait, so it is passed form parent to child if it is not a spontaneous mutation, there is a large chance that some of your relatives will have the disease and many will carry it, and there is a 50% chance that any of your children will inherit the disease. Most people diagnosed with vEDS before 18 years old are diagnosed due to a known family history. Once you have been diagnosed, it is important for you and your family to see a geneticist/genetic counsellor for screening and family planning. Diagnosis of vEDS in a child can also be very important as without the diagnosis the symptoms could suggest abuse.

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References:

Bowen, J., Tocher, J. (2016) Vascular Ehlers-Danlos syndrome. Available at: https://www.ehlers-danlos.org/information/vascular-ehlers-danlos-syndrome/ (Accessed: 03 November 2018).

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Ehlers-Danlos Support UK (unknown). Available at: https://www.ehlers-danlos.org/ (Accessed: 24 October 2018)

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Germain, D. (2007) ‘Ehlers-Danlos syndrome type IV’, Orphanet Journal of Rare Diseases, 2(32). Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1971255/ (Accessed: 12 November 2018)

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Pepin, M., Murray, M. and Byers, P. (1999) [Updated 2015] ‘Vascular Ehlers-Danlos Syndrome’, GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1494/ (Accessed: 4 November 2018).

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Byers, P., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L. and Wheeldon, N. (2017) ‘Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome’, American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 175(1), pp 40-47. Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31553 (Accessed: 12 November 2018)