Vascular Ehlers-Danlos Syndrome

vEDS is a condition you are born with, but symptoms may not occur until later in life. Often the symptoms start appearing during puberty, or because of a traumatic event triggering them such as a bad illness. It must be noted, however, that symptoms can still present themselves in a severe fashion at any stage in life, including childhood. Symptoms also have a varying degree of severity. Mild presentations of symptoms often go unnoticed or mistaken for something else, especially in children.

 

Severe symptoms include:

• Aneurysms

• Arterial, intestinal, uterine fragility

• Organ rupture (e.g. bowel, womb, spleen, liver, intestine)

• Pneumothorax (lung collapse)

• Vascular dissection/rupture

  • Arterial ruptures account for the majority of deaths

  • Cerebral arterial ruptures can affect mental health (may be mistaken for drug overdose)

• Increased risk of neurological and spinal problems such as:

  • Disk degeneration

  • Motor delay

  • Curvature of the spine

• Uterine complications

• Gastrointestinal complications

  • Colon and intestine perforations

  • Can cause leakage

  • Happens most often in the sigmoid colon

  • Rarely leads to death due to effective surgery

• Tendon/muscle rupture

• Stroke

• Carotid-cavernous fistula

 

Mild symptoms include:

• Easy Bruising

• Varicose veins (swollen/enlarged veins)

• Bladder dysfunction

• Increased risk of other bladder disorders

• Increased risk of migraines

• Weakness

• Fatigue

• Mild mobility impairment

• Long scarring process

• Ecchymoses (see Figure 1)​

• Haematomas​

• Congenital clubfoot

• Congenital hip dislocation

• Dislocation

• Inguinal hernia

• Hypermobile fingers and toes

• Delayed wound healing

 

Common features include:​

• Visible veins (See Figure 2)

  • Especially on the thorax, abdomen, and shoulders

• Translucent skin

• Smooth, soft, velvety skin

• Facial features (See Figure 3)

  • Thin lips 

  • Lobeless ears

  • Fine/thinning hair

  • Thin nose

  • Undersized jaw

  • Prominent eyes

  • Receeding gums

  • Prominent cheekbones and sunken cheeks

  • Colouring around the eyes

• Premature skin aging (acrogeria), especially on the hands and fee

​

​

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).

​

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

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

​

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).

​

NHS (2016) Ehlers-Danlos Syndromes. Available at: https://www.nhs.uk/conditions/ehlers-danlos-syndromes/ (Accessed: 24 October 2018).

​

Genetic and Rare Diseases Information Centre (unknown) Vascular Ehlers-Danlos Syndrome. Available at: https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome (Accessed: 14 November 2018).

​

Annabelles Challenge (2018) Vascular EDS. Available at: https://www.annabelleschallenge.org/vascular-eds/ (Accessed: 7 November 2018)

​

Shalhub, S., Black, J., Cecchi, A., Xu, Z., Griswold, B.F., Safi, J., Milewicz, D.M., McDonnell, N.B. (2014) ‘Molecular diagnosis in Vascular Ehlers-Danlos Syndrome Predicts Pattern of Arterial Involvement and Outcomes’, Journal of vascular surgery, 60(1). Available at: https://www.researchgate.net/publication/260995823_Molecular_diagnosis_in_Vascular_Ehlers-Danlos_Syndrome_Predicts_Pattern_of_Arterial_Involvement_and_Outcomes (Accessed: 16 November 2018)