A frequent concern is that the physician does not know anything about this type of EDS. Given the rarity of vascular EDS, outside of medical geneticists, vascular surgeons, and cardiologists few clinicians would be expected to have had significant (any) experience with people with the disorder. With this in mind, at the time of diagnosis, an affected individual should be referred to a centre in which there is both experience and expertise.
The referral pattern will vary depending on the geographic region. In some settings, centres of excellence have been established and referral patterns institutionalised. This is the case in France and the UK and in European countries in which reference networks have been set up. In others, the search for an expert may be ad hoc and success not guaranteed.
Consultation with the national or international peer groups or University Medical Centres or large free-standing clinical centres with large referral populations may help to identify clinicians with experience and knowledge.
Each individual with vascular EDS should have a primary physician, who acts as the care coordinator, and who is linked to a geneticist or other specialist with detailed knowledge of the disorder. The care team should include the primary care practitioner, a vascular surgeon, and a general surgeon.
A genetic consultation will help in identifying possible affected relatives who should be offered cascade testing. The psycho–social impact of the disease is too often neglected and often requires psychological care. It is helpful to have backups, and the team members should be introduced to the patient and family.
This team exists to care for the affected individual in the case of major complications, such as bowel rupture, arterial dissection or rupture. A clear protocol should be created, the local emergency room or rooms should have data about the individual and both the affected individual and relevant family members should know the protocol for contact.
A protocol for the emergency room evaluation needs to be established and the on-call caretakers must recognise the needs of the patient. Each affected individual should have letter or “passport”/Emergency Care Card to be carried and provided to the ER physicians at the time of consultation. Copies of such documents are available from several resources once the diagnosis has been established by genetic testing. For younger women planning pregnancy, a high risk team should be assembled that includes experienced obstetricians and vascular surgeons.
Having a medical care plan in place could make a significant difference to the outcome of any visit to the Accident & Emergency department for patients with vascular Ehlers-Danlos syndrome.
Vascular EDS is a life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile. VEDS patients are at risk of sudden arterial or organ rupture. This can occur at any age. Mid-size arteries are commonly involved.
Patient concerns should be taken seriously and any reports of pain need full and immediate investigation.
Ask your consultant to provide you with a written medical care plan specific to your vascular EDS and any other known conditions that might affect your care. Your medical care plan letter should be retained in your personal medical file and a copy sent to your local Accident and Emergency.
Keep a copy on you at all times when away from home. Ensure you are wearing a Medic Alert bracelet.
If you have just been diagnosed with vascular EDS you can claim free membership to MedicAlert UK through our charity.