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I truly hope that some medical professionals see this post, think about the symptoms one of their patients are experiencing, and recognise that their patient has Ehlers-Danlos Syndrome and are not making it up. Why is this important?I am fed up with seeing patients experiencing unnecessary medical trauma. Patients that I work with that have EDS are often relieved that I have simply heard of the. condition. It is utterly crazy that a health professional simply knowing, and having some understanding, of their condition is something that gives a lot of comfort to someone living with this condition. How are people with EDS treated by healthcare professionals?I have been told how people have been accused of being drug seeking, malingering, hypochondriacs. It has been shown that people with EDS can experience medical / clinician-associated trauma from the poor treatment they receive prior to receiving an EDS diagnosis (study). Another study found that 91% of people with EDS currently experience mental health difficulties, 43% experience past institutional and provider betrayal, 40% anticipate difficult experiences in future interactions with healthcare professionals, and 22% have a lack of trust in their healthcare provider.(study). Terrible experiences with healthcare professionals can lead to anxiety and panic when having to visit healthcare providers in the future (article) The long and short of it, people with EDS often are treated without compassion and care. That is wrong. What is Ehlers-Danlos Syndrome?EDS is a relatively rare condition, made up of 13 different types. It is a disorder of the connective tissue that supports the skin, bones, blood vessels, and other organs and tissues. What are the symptoms of Ehlers-Danlos Syndrome?
As mentioned above, there are 13 different types of EDS and it is therefore very unlikely that someone will have all of the aforementioned symptoms. Hypermobility is the most common symptom of EDS and the hypermobolity type is the most common type. In children this hypermobility can result in some developmental delay in children, such as sitting, standing, and walking. Chronic pain and dislocation is common in people with EDS. There is a type of EDS, arthrochalasia, where infants are born experiencing hypermobility and hip dislocations. Another relatively common symptom is stretchy elastic skin that is velvety soft to the touch. There is also a tendency to bruise and potentially have some abnormal forms of scarring. Some of the forms of EDS can have extremely serious consequences - vascular EDS can be fatal should any large vessel rupture - it can weaken the aorta, and also the walls of the uterus and intestine. People with vascular EDS would benefit from genetic counselling before considering starting a family. The Mayo Clinic states the following: "People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin." How is Ehlers-Danlos diagnosed?EDS is a genetic condition and there are around 20 identified genes that cause this condition. Typically the stretchy skin, hypermobility, and family history are sufficient for a diagnosis. It can be fruitful to have a genetic test to identify the type of EDS a person has. What is the Prevalence of EDS?It is estimated to affect approximately 1 in 5000 people. How did I get Ehlers-Danlos Syndrome?As above, EDS is a genetic condition. That means it is an inherited condition. Different forms of EDS have different likelihoods of inheritance. Some are autosomal dominant genes, meaning that whichever of your parents have EDS you have a 50% chance of having the condition. Some are autosomal recessive genes, meaning that both parents need to be carriers of the gene for there to be a 25% chance of having the condition. Some people have de novo gene variants with no family history. Ehlers-Danlos treatmentThere is no cure so all interventions are designed to help manage the symptoms and prevent complications. Typically people experiencing chronic pain may be on a cocktail of pain killers. Psychological pain management can also be a useful adjunctive to this. Some people may be diagnosed blood pressure medication to reduce pressure on the vessels. Physiotherapy is often offered, yet as EDS is a lifetime condition that never goes away, it's unlikely that the physiotherapy support will be totally sufficient. People with EDS are likely to need some psychology input. Firstly, to help them process the difficulties they experienced prior to diagnosis. Then to support them to deal with the challenges of living with a long-term health condition. This might be available through the NHS, or from private providers (like me). SummaryThis was a quickly put together article that may not be of the highest quality, yet is hopefully informative enough to give pause for thought. If one medic reads this and is able to identify EDS in one of their patients, mitigating the need for them to experience unnecessary trauma and disrespect, it would have been worth writing. If it helps a family member to recognise the symptoms in a loved-one and push for a diagnosis, it would have been worth writing. My hope is that people with EDS can be treated with dignity and compassion going forward. Long-term conditions are challenging enough to live with, without having years of battling against disbelief and constant invalidation. References www.sciencedirect.com/science/article/pii/S2667321523000215
https://ehlersdanlosnews.com/news/trauma-apt-way-capturing-eds-clinician-experience/ https://journals.sagepub.com/doi/10.1177/26330040211022033 https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/#frequency https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/symptoms-causes/syc-20362125 https://www.ehlers-danlos.com/what-is-eds/ https://www.nhs.uk/conditions/ehlers-danlos-syndromes/ https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/diagnosis-treatment/drc-20362149
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AuthorI am Dr Tim Mahy, also simply known as "Tim". I changed careers in my 20s, shifting from the world of Offshore finance, to that of Psychology (with 7 years of university to bridge the gap). Archives
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