It’s not ‘just hypermobility’
Ehlers Danlos Syndrome (EDS) refers to a group of conditions that affects connective tissues, which includes skin, bones, blood vessels and many other organs. Symptoms of Ehlers Danlos Syndrome can cause a range of symptoms such as loose joints and thin skin. Some subtypes of EDS can be life threatening. A lack of awareness and understanding about the complexities and dangers of this rare condition may result in adverse outcomes for many patients.
Vascular Ehlers Danlos Syndrome (VEDS) is one of the thirteen described sub-types of Ehlers Danlos Syndrome (EDS).
Annabelle’s Challenge is a charitable organisation started by Jared Griffin, following the diagnosis of VEDS in his daughter Annabelle. The charity aims to promote awareness and medical research into the rare, life-threatening and incurable genetic condition.
Lucy had the pleasure of speaking to Jared along with Clare, the Emergency Project Lead for the organisation as well as a VEDS patient herself. You can listen to the interview here which we published to mark VEDS awareness month.
A brief history and broad overview of EDS
Over the years the classification of the different subtypes of EDS has changed frequently. Originally, 11 subtypes were named using Roman numerals however, this proved to complicate matters. In 1997 researchers proposed reducing the subtypes to six distinct types with descriptive names. As genetic technology advanced, this classification system was once again altered in 2017 to include much rarer subtypes of EDS taking the number of subtypes up to an astonishing thirteen.
Most subtypes, although not all, share the characteristic of hypermobility (having an unusually large range of joint movement). For patients with Hypermobile EDS, this is the main feature and is the most well recognised. A medical history of a hypermobile child with a form of EDS may include hypotonia (weak muscle tone) and potentially being born with clubbed feet which in turn results in delayed milestone achievements for motor skills such as sitting, standing and walking. Many patients with a form of EDS have velvet soft skin that can be quite elastic but fragile and experiences easy bruising with seemingly no cause. Skin hyperextensibility that is loose and results in additional folds is a firm indication of the Dermatosparaxis type. Abnormal scarring, such as ‘cigarette paper’ scars is a hallmark feature of some types of EDS. This type of scarring refers to wounds that widen as they heal with new skin being thin and wrinkled. Any history of chronic joint pain and loose joints that are prone to dislocation should also raise the clinician’s eyebrow. Of course these are only a few broad features that could raise clinician suspicion. As connective tissue is such a vital tissue for our human composition, EDS can affect multiple different organs including affecting the valves of the heart, the cornea of the eyes, teeth and gum abnormalities, scoliosis, other skeletal abnormalities and much more. Clinician awareness and understanding that EDS is a chronic serious condition that can have many additional signs and symptoms is vital to ensuring patients are identified, diagnosed and provided with the appropriate available management and care.
Although hypermobility alone may not result in life threatening complications, VEDS should not be under-estimated. VEDS is a life threatening type of EDS affecting all connective tissues, arteries and internal organs making them extremely fragile. It is estimated to affect 1 in 90,000 people and it is suggested that around only 740 people have Vascular EDS in the UK.
Patients with VEDS are faced with the unpredictable risk of rupture of blood vessels and organs. Such a rupture could easily lead to intestinal perforation or stroke and even death. Pregnancy can be a particularly dangerous endeavor for patients with VEDS as they are at risk of uterine rupture with an estimated 5% risk of death. Having specialist obstetric care with additional specialist monitoring throughout a pregnancy is therefore vitally important for patients with VEDS.
What can be done for patients with VEDS?
A diagnosis of VEDS can usually be confirmed through molecular genetic testing as testing usually identifies a COL3A1 pathogenic mutation in approximately 95% of cases and rarely a COL1A1 mutation. Treatment and management is mainly focused on preventing serious complications and managing any symptoms. Patients should seek immediate medical attention upon experiencing any sudden or unexplained pain. Surgery may be needed for any ruptures or arterial complications. Periodic surveillance using imaging technology is recommended and frequent blood pressure monitoring is essential to detect any onset of hypertension. Patients are generally advised to avoid any contact sports and elective surgical or invasive procedures unless deemed medically necessary following a cost-benefit evaluation. Importantly, individuals with VEDS should have an emergency card or medic alert bracelet to ensure any medical team can easily be informed of the diagnosis and associated risks. The NHS now provides an emergency information card that can be presented if a patient seeks emergency care to help inform those attending to the patient of their VEDS diagnosis and of the risks and complications that could occur when any treatment or intervention is administered.
Annabelle on a mission for Vascular EDS
The amazing members of Annabelle’s Challenge are on a mission to improve the lives and care of those affected by VEDS. As is evident in the words of founder and CEO Jared Griffin,
My daughter Annabelle was diagnosed with VEDS in December 2012 aged 3, she was the youngest in the UK at the time. Myself and our family were devastated to receive the news of this diagnosis and when we returned home that day and started to research the condition on the internet we were appalled at the negative stories and lack of support for those with VEDS. We did not want any other families to experience the same start to our journey with vascular EDS and that inspired us to set up Annabelle’s Challenge. Initially it was set up just to raise awareness of Annabelle and VEDS, however within days people reached out to myself and my family to say they also had V EDS. Annabelle’s Challenge then quickly expanded, registering as a charity and we now support over 355 families with the condition.
Jared Griffin
The charity has grown and has expanded over the years and the organization now works closely with the EDS National Diagnostic Service helping families nationally.
The ‘unknown uknowns’
Clare Stacey works as the Emergency Care Lead for Annabelle’s Challenge to improve the outcomes for VEDS patients when accessing emergency care. Being a patient with VEDS herself has inspired her to draw on her own experiences attending the A&E. Prior to her first initial vascular episode, her greatest challenge was to ensure that her attending physician knew that she had vascular EDS and not hypermobility alone or hypermobile EDS, a much more common and less severe form of EDS without the vascular involvement. Clare emphasizes that it is important to remember that it is impossible for all doctors to be experts on all conditions and that a doctor or nurse may have never heard of, let alone seen a real life patient present with VEDS.
A doctor explained to me what he called the ‘unknown, unknowns’: There are things he knows that he knows, and there are things he knows he doesn’t know. But then there are the things he doesn’t know that he doesn’t know. VEDS frequently falls into this category. On the flip side, a doctor may believe they understand VEDS. However, they may not fully appreciate the potential complications, such as the subtle presentation and instability, especially if this is based on textbook knowledge
Clare Stacy
You don’t look like a ‘vascular patient’
The second issue Clare has frequently encountered in the A&E is that she does not look ill and furthermore, does not have the textbook factors which would put her at an increased risk of having a vascular event.
When reflecting on a difficult experience with an A&E consultant, he told me: ‘You do not look like a ‘vascular’ patient’. Meaning that I do not present with the normal risk factors that would alert doctors to a potential vascular problem. I am younger than a typical ‘vascular’ patient, I am not overweight, I don’t smoke, and I don’t have high blood pressure. Therefore, on initial presentation a doctor may not consider vascular complications, especially if they have no experience of VEDS. I had always expected that looking ‘normal’ could be a problem if I was ever to experience a complication. But this was a complete revelation to me, because as someone with VEDS all I can think about is vascular problems.
Presentation of the emergency card explaining the risks of vascular events may help circumvent this problem and may save a patient’s life.
Subtle signs and unpredictability
Clare’s determination to help educate healthcare providers and uplift and empower patients with VEDS is infectious. She speaks of the subtle presentation of symptoms and the unpredictability of vascular episodes. Patients should be listened to and clinicians should be attentive as pain can be subtle yet serious and vascular events can present differently in patients with this rare condition.
I went home only to return to A&E a few hours later because I couldn’t tolerate the pain, and my condition deteriorated. The outcome was that I went on to develop several aneurysms in the arm that required surgery. Aneurysms in the arm are very rare, so that complicated the situation. On reflection, I should have trusted my instincts, and asked for a second opinion at consultant level, and refused to leave A&E. After the event the vascular team agreed that I should have been admitted for further investigation.
Clare
The perception of pain
Clare has also experienced that her pain has frequently been dismissed but speaks of the importance of using pain as an indication that something is amiss.
Pain in the event of vascular complications is very unpleasant, but it is also an invaluable indicator when you have VEDS. Getting others to understand how much pain you are in is very difficult. Feeling like the doctors didn’t believe me was really upsetting and frightening, but the rational part of me understands that pain is very difficult to assess in another person. Especially in the case of rare conditions, and VEDS pain presents itself differently because symptoms are more unusual
Clare
Clare’s lived experience is driving her to educate healthcare practitioners that a patient with VEDS who is in pain, should never be discharged from A&E, even if routine imaging yields no probable cause and that senior and specialist advice must always be sought under such circumstances.
Life with VEDS is hard. You often don’t feel safe in your own body, or in the care of health professionals. The last thing you want to do when you are unwell is challenge a doctor’s decision. But as people living with a rare condition we often have no choice, and need to work alongside health professionals in the management of our condition. Regardless of the challenges I have faced, I have huge respect for the health professionals involved in my care. I owe them my life, and will never be able to thank them enough for what they have done for me.
Clare
Clare hopes that through sharing her understanding and challenges within the A&E setting that patients can receive the care that they need. Together, Jared, Clare and the wider team at Annabelle’s Challenge, wish to provide healthcare professionals with a deeper understanding of the potential complications associated with this rare condition.
References
Byers PH. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [Updated 2019 Feb 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1494/
https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/#causes
Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes BMJ 2019; 366 :l4966 doi:10.1136/bmj.l4966
