Jessica Bowen and Judy Tocher, Genetic Counsellors, EDS National Diagnostic Service, Sheffield
Please note: The following text cannot and should not replace advice from the patient’s healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This sheet is for information only and is not intended to provide individual medical advice.
This information is intended for people who have been recently diagnosed with vascular Ehlers-Danlos syndrome (vascular EDS) and their friends and relatives.
When you receive a new diagnosis, this can be a time of great stress, anxiety and confusion. Sometimes you can be in a state of shock making it difficult to take in what the medical professionals are telling you. The key thing to remember about vascular EDS is that you are in a better position once the diagnosis is known.
The evidence shows that 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 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.
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.
Common features include:
- A history of easy and significant bruising
- Varicose veins developing at a younger age than usual
- Lobeless ears
- Fine hair which may be thinning
- Unusually visible veins
- Thin nose and lips
- Prominent eyes
- Premature ageing of the skin on the hands and feet
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 and 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.
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 really 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.
We recommend wearing a medical alert bracelet or necklace so the information about your diagnosis is available whenever it may be needed. The EDS National Diagnostic Service has produced a medic alert sheet for professionals with the information that may be needed in case of an emergency. This information sheet is very technical and may not be easy for patients to read. It is written in this way to ensure medical staff take note and act on the information.
The medical alert information sheet, and the new Emergency Information Card for vascular EDS, are available from the EDS National Diagnostic Service for patients with a confirmed genetic diagnosis of vascular EDS.
For more information contact the EDS Coordinator at email@example.com
EDS UK also produces a wallet card with helpful information about vascular EDS.
Activities to be avoided
Activities that increase the stress on the arteries, or those with a higher chance of causing injury, are likely to increase the risks. These include:
- Strenuous contact sports such as rugby, wrestling, boxing, martial arts and football, where there is a high risk of a physical blow to the body
- Sprinting and activities involving sudden acceleration
- Tasks involving pushing or lifting very heavy objects
- Competitive exercise performed to the point of exhaustion
It is very difficult to produce an exhaustive list of ‘do’s and don’ts’ but a sensible approach is needed to avoid activities that pose a potential high risk.
There is no indication against being on an aeroplane, but it is worth considering the risk associated with long haul flights. If a medical emergency were to happen mid-flight there would be a considerable delay before any medical assistance would be available.
Playing a brass instrument such as trumpet or trombone causes an increase in pressure on the lungs and blood vessels so alternative instruments are advised.
Activities to be encouraged
We all need to take regular exercise to maintain our fitness and contribute to our overall general health and wellbeing. 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
- Bicycle riding
- Walking or hiking
Becoming your own advocate
It is not uncommon for someone with vascular EDS to attend their local Accident and Emergency department, only to find that the medical staff have never heard of the condition. This is understandable because vascular EDS is a very rare condition. It is therefore important that you inform them of your vascular EDS diagnosis. It is helpful to be able to show proof of your diagnosis and give some information about what the diagnosis means. A medic alert disc provides this information when you can’t.
Patients with vascular EDS have said that it can be hard to get medical staff to acknowledge their diagnosis, which is obviously frustrating. If any medical staff want further advice, it may be a good idea to give them details of your main consultant, or cardiologist. Medical professionals may also wish to contact the person that made your diagnosis, or the EDS National Diagnostic Service.
We encourage all patients with vascular EDS to be seen at least once a year in a specialist cardiac clinic. Your cardiologist can discuss management of your blood pressure and may prescribe medication. It is hoped that certain medications may help to prevent arterial rupture, although there is no clear cut evidence on this yet. You will also be offered scans to monitor your blood vessels for aneurysms. If you are under the care of a specialist clinic this will ensure that you receive the most up-to-date care based on the latest research findings.
Generally the advice is to avoid surgery wherever possible. The fragility of the tissues and blood vessels makes this much more difficult for the surgeon and puts you at an increased risk of serious complications. Of course in a life threatening situation, surgery may be the right option.
Parents of a child diagnosed with vascular EDS
Your child may have been diagnosed because one of his/her parents has vascular EDS, or it may be that there is no family history and your child is the first person in the family to be diagnosed. In all cases it is understandable that parents will worry about their child and want to protect them from harm. However it is also important that your child has opportunities to lead a full and rewarding life and to experience the joys of childhood. It is not possible to eliminate the risks of vascular EDS, but sensible measures can be adopted to avoid high risk situations. Alternative activities should be provided where participation in a particular activity is thought to be best avoided.
Many children with vascular EDS do not present with any medical problems and most people with vascular EDS are diagnosed as adults. However once the diagnosis is known it can be used to guide medical care in an emergency situation. It is therefore important that the information is given to schools, childminders, activity group leaders and others that are looking after your child.
If you are a parent of a child with vascular EDS you can join the EDS UK parents’ group and talk to other parents in the same situation.
Any pregnancy puts the cardiovascular system (heart and blood vessels) under exceptional pressure. There are additional risks for women with vascular EDS in pregnancy, due to blood vessel fragility. Many women still choose to become pregnant, while others may choose surrogacy or adoption.
In a pregnancy it is essential that the obstetrician and midwives are aware of the diagnosis of vascular EDS as soon as the pregnancy is confirmed. We recommend starting maternity leave and resting from 30 weeks of pregnancy, or possibly earlier if recommended by the obstetrician. As pregnancy progresses pregnant women with vascular EDS have a higher chance of blood vessel or uterine rupture. The timing of delivery of the baby will be decided by the obstetrician. A planned Caesarean delivery, in a hospital with access to specialist vascular surgery may be suggested. The baby may be born prematurely because the cervix and membranes surrounding the baby can be weak or fragile. There is also evidence that women with vascular EDS have a higher risk of tears (lacerations) of the birth canal during delivery. Women with vascular EDS should be closely monitored in pregnancy, and in the weeks following the birth.
Information for relatives
Vascular EDS is a genetic condition. It can start for the first time in someone, or be inherited from a parent. Once someone is diagnosed with vascular EDS we know there is a 50% (1 in 2) chance for any children to have inherited the condition. If any family members would like further information about the implications for them, they should talk to their GP about the possibility of being referred to their local genetics service.
The internet is not a very good place to seek information about vascular EDS as there tends to be a bias towards those who have had more problems and a worse outcome. Current evidence suggests that outlook is better than previously reported once the diagnosis is known and the right emergency care received. If you have further questions about your diagnosis you may wish to be seen by the EDS National Diagnostic Service, or one of the specialist cardiac clinics.
The information in this sheet is based on the experience and expertise of the UK’s National Diagnostic Service.
Peer reviewed by:
Dr Glenda Sobey - Consultant Dermatologist at The EDS National Diagnostic Service, Sheffield
Carole Cummings - Genetic Counsellor at The National Ehlers-Danlos Syndrome Diagnostic Service, London
Date of last review: April 2016
Date of next review: April 2019
The views expressed are those of the author(s) and should not be construed to represent the opinions or policy of the Ehlers-Danlos Support UK or its trustees