What is Vascular Ehlers-Danlos Syndrome (vEDS)?
Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.
Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving signs and symptoms.
Signs & Symptoms of Vascular EDS
We know that day to day, many people with vascular EDS have no problems and live full and enjoyable lives. However, people with vascular EDS do have fragile connective tissues, as the condition is caused by faulty type III collagen.
What are the main signs and symptoms of vascular EDS?
Individuals with vascular EDS may have the following features:
- Tendency to bruise very easily because blood vessels are more fragile.
- Thin skin which makes small blood vessels visible on the upper chest, and legs.
- Risk of hollow organ rupture, most commonly the large bowel. There is also a risk of rupture of the spleen, or the uterus (womb) in pregnancy.
- Fragile blood vessels (arteries) which can lead to major complications, including ruptures, dissections or aneurysms.
Occasionally there may be other features present including:
- Hypermobility of small joints. (i.e. fingers and toes).
- Premature ageing of the skin on hands and feet.
- Facial features, including a thin nose and lips, large eyes, small earlobes and fine hair.
- Joint contractures caused by shortening of the ligaments.
- Partial collapse of the lung called a pneumothorax.
- Problems, such as bleeding or receding gums.
- Varicose veins may occur in early adult life.
- Wounds may take longer to heal.
Although thin skin with readily visible venous patterning is one of the typical features described in individuals with vascular EDS, it is often a subtle finding and bruising that is not explained by trauma is more common.
Acrogeria, is a cutaneous condition characterised by premature ageing, more especially in the form of unusually fragile, thin skin on the hands and feet, however this is uncommon in patients diagnosed with vascular EDS.
Bruising may increase with aspirin or non-steroidal anti-inflammatory medications and certain in the presence of anticoagulant treatment.
Height varies through the normal range although small for family may be more common. Congenital hip dislocation is increased as is congenital talipes and limb reduction defects (perhaps secondary to amputations by amniotic bands) when compared to the average population but these alone are generally insufficient to warrant diagnostic testing.
Distal joint contractures occur in a small proportion of individuals, these are progressive and can be disabling. There also appears to be an increase in the relative frequency of muscle and tendon rupture, but these data have not been aggregated.
Patients with haploinsufficiency vascular EDS have a different underlying cause of their vascular EDS. Most vascular EDS patients have one ‘normal’ type III collagen gene (COL3A1) and one ‘abnormal’ (or mutated) type III collagen gene.
This leads to abnormal collagen fibers, with 7/8ths of the collagen produced being abnormal. Haploinsufficiency vascular EDS is caused by having one ‘normal’ type III collagen gene and then one gene that does not produce any collagen. This is known as a ‘null mutation’. Therefore, these patients only produce normal collagen, but in less quantity compared to a person unaffected by vascular EDS.
As a result, haploinsufficiency vascular EDS tends to have later onset of complications by almost 15 years and extended life expectancy compared to other vascular EDS patients.
Compared with individuals with missense or exon-skipping mutations, it was found that life span was extended, the age of first complication was delayed by almost 15 years, and major complications were limited to vascular events.
Source: [1 Vascular Ehlers-Danlos Syndrome l Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov) ] [2 Ehlers-Danlos Society] [3 2017 International Classification of the Ehlers-Danlos Syndromes]
Diagnosis of Vascular Ehlers-Danlos Syndrome
In many people without a family history of the condition a diagnosis of vascular EDS is not considered until they present with a medical emergency such as dissection or rupture of an artery, an organ rupture (for example bowel or womb) or after the discovery of one or more aneurysms (a swelling in an artery).
There are other medical conditions with some of the same symptoms such as Marfan syndrome, Loeys-Dietz syndrome and SCAD therefore it is very important that a suspected diagnosis of vascular EDS is confirmed by a genetic test.
The gene associated with vascular EDS is called COL3A1 and an alteration in this gene is found in over 99% of people who have vascular EDS. In rare cases, genetic testing does not confirm the diagnosis and a skin biopsy to look at a piece of skin under the electron microscope can help clarify whether vascular EDS is the correct diagnosis.
Major Criteria include:
- Family history proven vEDS
- Aterial rupture at young age
- Spontaneous colon perforation in absence of other disease
- Uterine rupture without predisposing cause
- Cartoid-cavernous sinus fistula without trauma
Minor criteria include:
- Bruising not related to trauma or in unusual sites
- Thin, translucent skin with easily visible veins
- Characteristic facial appearance
- Spontaneous pneumothorax
- Talipes equinovarus
- Congenital hip dislocation
- Hypermobility of small joints
- Tendon and muscle rupture
- Gingival recession and gingival fragility
- Early onset varicose veins (under age 30 and nulliparous if female)
You will need to see a genetic specialist in order to determine vEDS. This can be done by talking to your GP and/or specialist, who will then set up a referral to the closest genetic specialist to you.
VEDS Management Plan
You’ve just been diagnosed, now what? Firstly, stay positive – you are not alone! Support is available to you.
We know this can be overwhelming, so please download our vEDS Information Pack which outlines everything on this page, plus more, with resources, templates, and links so you can take your time to work through all of this and fully absorb the information.
Included in the pack are tips for creating a Care Team, Creating an Emergency File, Creating a School Plan if it is a child that has been diagnosed, Mental Health Supports, Local and Nationwide EDS Support Groups, Financial Support you may be entitled, Travel Advice and much more.
Create a Care Team
It is not uncommon for someone with Vascular EDS to attend their local Emergency Department only to find that the medical staff have never heard of the condition. This is understandable because Vascular EDS is a rare condition. The Create a Care Team guide will take you through understanding why this is necessary, as well as get you started with a template you can fill out with your Care Team details
Creating a Medical Emergency File
There are several things that should be contained within your Medical Emergency File, and here we will go into more detail on this. We also have easy printable resources to help you create your Medical Emergency File. You will need several copies of your file – One for at home, one for your car or to be kept with you at all times, and one for the workplace, or if it is a child, at their school.
Your file should include:
- A copy of the letter of diagnosis from your specialist. Photocopy your letter and print a copy for each of your files.
- Emergency Medical File
- Care Team Information
For a child you will also want to include a Care Plan for the school as well as a PE Risk Analysis Form, we have provided samples of this as well as bare templates for your own use in our vEDS Document.
With a diagnosis of Vascular EDS we recommend getting a MedicAlert bracelet. This will help medical professionals identify quickly that you have vEDS in the event you suffer a medical emergency and are unable to verbalise your condition. With vEDS, every second counts. Please discuss this with your GP.
Support for Vascular Ehlers-Danlos Syndrome
RED4VEDS Day is a global campaign that takes place every year on the third Friday of May, and was kickstarted by Annabelles Challenge, a UK charity dedicated to spreading awareness of Vascular Ehlers-Danlos Syndrome. Annabelle’s Challenge provided us with the basis for the Vascular EDS Document.
EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: