Vascular Ehlers-Danlos Syndrome (vEDS)

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.[1][2] 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.[3] Inheritance is autosomal dominant.[2] Treatment and management is focused on preventing serious complications and relieving signs and symptoms.[2][4]

Source: https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome

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.
  • Clubfoot.

Skin

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.

Musculoskeletal

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.

COL3A1 Haploinsufficiency

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.

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.

Vascular EDS Document

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:

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.

EDS ECHO Event Series: Vascular Ehlers-Danlos-Syndrome (vEDS)

July 30-31, 2021

Hosted by Ehlers Danlos Society International.

We are delighted to be hosting a dedicated event for vascular Ehlers-Danlos syndrome (vEDS). Join us as leading experts present the latest research, management, and scientific information on vEDS and comorbidities. 

We will be offering live translations during this event in English (original language), French, German, Spanish, and Japanese.

July 30, 2021, will be Healthcare Professionals Day. CME/CEU/CE Credits will be available (pending approval), and available to claim for sessions that are viewed LIVE.
The health professional’s day will take place from 08:45 AM – 4:45 PM Eastern Time.

July 31, 2021, will be Community Day.
This day is for members of the EDS and HSD community, their families, and caregivers. The community day will take place from 08:45 AM – 4:45 PM Eastern Time.
(Please use the converter world time buddy to find the correct times in your location.)

The agenda will be announced soon.

The conference will take place online via Zoom Webinar. If you have questions or if you would be interested in sharing your experiences as part of our Community Voices segment, please email events@ehlers-danlos.com.