Vascular EDS (vEDS)

A rare genetic disorder caused by a mutation in the COL3A1 gene.

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What is vascular EDS?

Vascular EDS is a genetic disorder caused by pathogenic variants in the COL3A1 gene, which affect the production of type III collagen. This makes the connective tissue less effective, particularly the blood vessels, hollow organs and the skin.

Vascular EDS is an autosomal dominant condition for which genetic testing is required for a definitive diagnosis. It is estimated to affect between 1/50,000 to 1/200,000 people (Byers et al. 2017). In the UK that would mean around 740 people.

People with vascular EDS have a risk of fragile blood vessels, which can lead to major complications, including ruptures, dissections or aneurysms. Previously known as Ehlers-Danlos type 4, it is a rare type of Ehlers-Danlos syndrome.

Vascular EDS (vEDS) can be very variable even within the same family. It is also rare and therefore many health professionals will not have seen someone with this diagnosis.

With the correct precautions in place, people can live very long lives with vEDS (Our database has of 70/80+ years old).

What causes vascular EDS?

Vascular EDS is a genetic condition caused by an alteration, also known as a mutation, in a gene called COL3A1. This gene is the instruction for making collagen type III. When the gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particular in blood vessels, hollow organs and the skin.

Blood vessel dissection and rupture as well as hollow organ rupture are potentially fatal consequences of vascular EDS. Evidence suggests that having a correct diagnosis made, with appropriate clinical management and long-term follow-up improves survival for vascular EDS patients.

Patients with vascular EDS should avoid any invasive tests or invasive treatments unless strictly necessary. Invasive techniques that are routinely arranged for other patients could damage the fragile tissues and organs of someone with vascular EDS. Therefore, once the diagnosis is known, someone with vascular EDS is in a better position to receive appropriate medical care.

We know that day to day, many people with vascular EDS live full and enjoyable lives, outcomes are improved with early diagnosis, appropriate medical management, lifestyle advice, and medication.

Making a diagnosis of vascular EDS

Some people with vascular EDS are diagnosed on the basis of subtle signs in their physical appearance, together with their medical history. Many people who do not have vascular EDS can have some of these features as some are common in the general population. Also, not everyone with a confirmed diagnosis of vascular EDS has all of the typical features.

What are the main symptoms and signs of vascular EDS?

Individuals with vascular EDS may have the following features:

Tendency to bruise very easily because the 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 rupture, dissections or aneurysms.

Occasionally there may be other features present including:

Varicose veins developing at a younger age than usual.
Facial features, including a thin nose and lips, large eyes, small earlobes and fine hair.
Gum problems, such as bleeding or receding gums.
Partial collapse of the lung called a pneumothorax.
Premature ageing of the skin on hands and feet.
Sleeping with eye lids partially open.
Hypermobility of small joints (i.e. fingers and toes).
Wounds may take longer to heal.
Club foot (Talipes) at birth.

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EDS Service

We work closely with the EDS National Diagnostic Service, a highly specialised service commissioned by NHS England for individuals and families who are suspected to have complex Ehlers-Danlos Syndrome.

Established in 2009 the service runs two specialist clinics for patients based at Sheffield Northern General Hospital and the Northwick Park & St Mark's Hospitals in London.

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In the latest Patient Perspectives by Front Line Genomics, we are joined by Jared Griffin, the Founder and CEO of Annabelle’s Challenge. In 2012, Jared's daughter Annabelle was diagnosed with vEDS, a rare connective tissue disorder, which led him to launch the charity in 2013. In our chat, Jared discusses what the journey was like to get a diagnosis, what it has been like starting a charity from scratch and the exciting projects that are upcoming.

How does vascular EDS occur?

Vascular EDS can occur as the result of either:

A new gene mutation (de novo), a term used to describe a change in the DNA sequence of a gene that is seen for the first time in a person and has not appeared in previous generations.

Inherited from a parent (autosomal dominant inheritance).

A new gene mutation

The gene alteration can happen for the first time in an individual, so there may be no previously affected family members. This is a spontaneous mutation (called a de novo mutation) that occurs in either the egg or the sperm that gave rise to the pregnancy.

As a result, they are the first person in their family to have vascular EDS without being inherited from a parent and can now pass it on with a 50 percent chance of transmission with each pregnancy.

Inherited from a parent

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions which make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

People diagnosed with vascular EDS will have an alteration in one copy of the COL3A1 gene. The inheritance pattern for this is called autosomal dominant inheritance, because the altered copy of the gene is dominant over the other copy. Autosomal means it can affect, and be passed on by, both males and females.

When someone with this condition has children, they will pass on one copy of their COL3A1 gene to each child, either their altered or unaltered gene. So in pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having vascular EDS. Equally, there is a 50% (1 in 2) chance of a child getting the unaltered copy of the gene and not inheriting the condition.

This short animation from the Genomics Education Programme shows how autosomal dominant conditions are inherited, and explains the probability of an affected parent passing on the condition to their children.

Is there anything an individual with vascular EDS should avoid doing?

Strenuous contact sports where there is a high risk of a physical blow to the body.

Individuals with vascular EDS should avoid sudden changes of load e.g. lifting very heavy weights, sudden changes of acceleration (sprinting), isometric exercises such as weight training and riding on roller coasters.

Strenuous household tasks involving lifting or pushing large or heavy objects.

Archery, Basketball, Bouncy Castles, Boxing, Bungee Jumps, Deep Sea Diving, Distance Running, Golf, Hand Gliding, High Diving, Intense Football, Judo, Karate, Martial Arts, Mountaineering, Rowing, Rugby, Scuba Diving, Skiing, Sky diving, Squash, Trampolining and Wrestling.

Smoking / Vaping.

Brass and woodwind musical instruments also involve physical exertion, so alternative instruments may be more suitable.

The two concerns with ‘high level’ sports activities are that trauma from collisions can lead to rupture of blood vessels, and that the rapid and repeated increases in blood pressure can compromise normal blood vessel structure, setting patients up for dissection (tears) or rupture of blood vessels.

However, it is important to maintain a healthy lifestyle and wellbeing so gentle exercise of around 45 minutes per day, such as walking, cycling or swimming will be beneficial. We recommend talking to your cardiologist to agree an exercise plan relevant to you and your medical history.

There is an increased risk of bowel rupture and so constipation should be avoided. A balanced diet with plenty of fruit and vegetables will help. Some medication can cause constipation (e.g. codeine or iron supplements) and alternatives should be used.

It is very difficult to produce an exhaustive list of ‘dos and don’ts’ but a sensible approach is needed to avoid activities that pose a potential high risk.

Activities to be encouraged

We all need to take regular exercise to maintain our fitness and contribute to our overall general health and well-being. Activities that do not strain muscles or cause a sustained increase in blood pressure and heart rate are to be recommended.

You should aim to be able to hold a normal conversation during any activity.

Activities can include, but are not limited to, the following:

Regular aerobic exercise performed in moderation.

Arts and Crafts, Badminton, Bowls, Cycling, Dance, Drama, Fishing, Gardening, Gymnastics, Hiking, Kwik Cricket, Light Jogging, Orienteering, Pottery, Photography, Physio, Refereeing, Rounders, Swimming, Table Tennis, Tag-Rugby, Tai Chi, Tennis, Walking, Yoga and Zumba.

Go on vacation! Air travel is not considered to increase the risks of rupture.

Lifestyle Intervention Programme

Living with vascular EDS

Although you may have been diagnosed recently you will have had vascular EDS since the moment you were conceived. Some people will have had a normal childhood and may not experience any significant problems until much later in life. Others will have had signs of vascular EDS from a young age.

Day to day many people with vascular EDS are physically fit and well. However, people with vascular EDS have a risk of problems due to fragile blood vessels and hollow organs which could rupture. These events are unpredictable so they usually result in emergency situations. At such times it is essential that medical professionals have information about your diagnosis so that you get the right medical care quickly.

It can be challenging coming to terms with and living with this knowledge. The diagnosis can be worrying and some people will suffer with anxiety because of the future uncertainties. It can be helpful to learn strategies to cope with these feelings. Some people benefit from counselling sessions to help them adjust to their new status and living with the risks.

The risks cannot be eliminated, but sensible precautions can be taken to avoid activities that may pose a higher threat.

Becoming your own self-advocate

It’s a must for anyone who’s managing a serious rare disease such as vascular EDS and for those who are caregivers. You’ll feel more prepared to self-advocate if you start learning all you can about vascular EDS, especially about how to get access to the medical care you need, and any scans that may be required such as a CT or MRI.

It is not uncommon for someone with vascular EDS to attend their local Emergency Department, only to find that the medical staff have very little of no knowledge of the condition, they might suggest they know about Ehlers Danlos syndrome (EDS) when in fact they probably know absolutely nothing about the vascular type EDS.

You and/or your caregiver will need to become self-advocates. Advocacy is important because it may reduce the chances of errors, incorrect discharge and harm to a vascular EDS patient. Primarily, nurses may need to speak on behalf of you and/or your caregiver and collaborate with the healthcare team.

Being a self-advocate means learning how to be direct about what you think you may need in terms of your treatment plan. It also means listening and learning from your health care providers, all of whom are experts in their fields. From these discussions, you and your medical team can develop a plan that works for you. Being a self-advocate also means asking for help when you need it.

Be confident, voice your opinion, be firm and be positive.

Annabelle's Challenge will support you in becoming your own self-advocate, call us on 0800 917 8495 for advice.

Remember you are not alone, we are here to support you!

Management of vascular EDS - our experience by Dr Glenda Sobey, Lead Consultant EDS Service.

What are the Ehlers-Danlos syndromes?

The Ehlers-Danlos syndromes (EDS) are a group of thirteen individual genetic conditions, all of which affect the body’s connective tissue.

Connective tissue lies between other tissues and organs, keeping these separate whilst connecting them, holding everything in place and providing support, like the mortar between bricks.

In EDS, a gene mutation causes a certain kind of connective tissue – the kind will depend on the type of EDS but usually a form of collagen – to be fragile and stretchy. This stretchiness can sometimes be seen in the skin of someone with EDS; individuals with the condition may also be able to extend their joints further than is usual – this is known as being hypermobile, bendy or double-jointed.

As collagen is present throughout the body, people with EDS tend to experience a broad range of symptoms, most of them less visible than the skin and joint differences.

These are complex syndromes affecting many systems of the body at once, despite this EDS is often an invisible disability. Symptoms commonly include, but are not limited to, long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders. Such problems and their severity vary considerably from person to person, even in the same type of EDS and within the same family.

EDS Subtypes:

Classical EDS (cEDS)
Classical-like EDS (clEDS)
Cardiac-valvular EDS (cvEDS)
Vascular EDS (vEDS)
Hypermobile EDS (hEDS)
Arthrochalasia EDS (aEDS)
Dermatosparaxis EDS (dEDS)
Kyphoscoliotic EDS (kEDS)
Brittle Cornea Syndrome (BCS)
Spondylodysplastic EDS (spEDS)
Musculocontractural EDS (mcEDS)
Myopathic EDS (mEDS)
Periodontal EDS (pEDS)

The syndrome is named after two physicians, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who identified it at the turn of the 20th century.

Meet Ehlers & Danlos

Edvard Laurits Ehlers (26 March 1863 Copenhagen – 7 May 1937) was a Danish dermatologist whose name was given to a group of genetic misfunctions of connective tissue, called Ehlers–Danlos syndrome (EDS).

Edvard Lauritz Ehlers grew up as the Mayor of Copenhagen's son and qualified in medicine in 1891. In the following years he went into further studies in Berlin, Breslau, Vienna and Paris. In Iceland he studied the decline of leprosy and was rewarded for his studies with a prize from the National Leprosy Fund in London. In 1906 he was appointed chief of the dermatological polyclinic at the Frederiks Hospital in Copenhagen. From 1911 to his retirement in 1932, Ehlers was director at the municipal hospital of Copenhagen.

Henri-Alexandre Danlos (March 26, 1844 – September 12, 1912) was a French physician and dermatologist born in Paris.

With Edvard Ehlers, the Ehlers–Danlos syndrome is named.

He studied medicine in Paris, and during the early part of his career performed research in the laboratory of Charles-Adolphe Wurtz (1817-1884). In 1881 he became médecin des hôpitaux, and four years later was chef de service at the Hospital Tenon in Paris. In 1895 he received an appointment at the Hospital Saint-Louis.

Danlos was pioneer in the use of radium for treatment of lupus erythematosus of the skin, and in 1901 with physicist Eugène Bloch (1878-1944), he was the first to apply radium on tuberculous skin lesions.

Page last updated: December 2024