May is EDS/HSD Awareness Month. Thank you if you are reading this, I hugely appreciate your support in raising awareness for these conditions, please help us by sharing this post on your social media platforms.
*Disclaimer, I am not a medical professional. I also speak primarily about hEDS/HSD as I have a diagnosis of Hypermobility Syndrome and have more experience discussing this*
What is EDS/HSD?
The Ehlers-Danlos Syndromes (EDS) are a group of genetic conditions which affect the body’s connective tissue. Connective tissue is like the glue that holds our bodies together, similar to the mortar between bricks.
There are 13 different types of EDS including Hypermobile-EDS (hEDS), Vascular-EDS (vEDS) Classical-EDS (cEDS) and more.
Hypermobile Ehlers-Danlos Syndrome is also a part of the Hypermobility Spectrum Disorder (HSD).
Joint hypermobility has a lot of possible complications therefore; it is now classed as a spectrum disorder. One end of the spectrum sits hypermobility which causes no symptoms where it’s classified as a trait verses a disease. At the other end of the spectrum is hEDS. In between these two sits a wide range of hypermobility related conditions which are referred to as Hypermobility Spectrum Disorders (HSD).
It was widely believed that hEDS overruled HSD in the pain, symptoms and complications it can cause. However, a person with HSD can be just as symptomatic if not more so than a person with hEDS. In fact, the management advice for both are exactly the same.
What Causes EDS/HSD?
In EDS patients, a gene mutation causes connective tissue to become fragile and stretchy. Depending on the type of connective tissue depends on the type of EDS you have however, it is usually a form of collagen that causes these problems. This stretchiness is found in the connective tissue and in some cases can be seen in the skin.
Diagnosis for EDS/HSD
If your Doctors suspects, you have EDS you would need a referral to a geneticist to be diagnosed with the rarer types of EDS and they will be able to tell you what type of EDS you have.
However, if your Doctor believes you to have hEDS/HSD it is highly unlikely you will be referred to a geneticist. The gene mutation(s) for hEDS/HSD has not yet been found. Therefore, you are diagnosed based on a list of criteria including movement. Your Doctor will also be looking at diagnosing you through the process of elimination as many symptoms can cross over with other conditions.
There is very little awareness amongst medical professionals for EDS/HSD which means the road to diagnosis is often incredibly long and complex. Patients can wait years, decades even and in some cases they don’t receive a diagnosis at all.
Patients are often misdiagnosed whilst medical professionals look for a diagnosis and a treatment plan. Fibromyalgia and ME/CFS are common misdiagnosis. If patients have co-morbities of their condition they too are often misdiagnosed or left untreated for significant periods of time.
EDS is a genetic condition, depending on the type of EDS/HSD you have can change the pattern of inheritance. If patients receive the right diagnosis it enables them to assess the possibility of passing on their condition in the future as well as helping other members of a family to be diagnosed if they too are symptomatic.
There are sadly many Doctors that don’t see the need for diagnosis but diagnosis provides proper management of the condition. Many patients with the condition would also argue that diagnosis is important from a psychological point of view. It allows them to understand what their going through and it supports them in acceptance of their physical pain and symptoms.
Symptoms of EDS/HSD
Symptoms of EDS/HSD affect every patient differently and the severity of their condition varies considerably whether or not two people have the same type of EDS/HSD or the condition runs within a family.
Collagen is found throughout the body and therefore people with EDS will experience a broad range of symptoms. The majority of symptoms are less visible than the differences in the joints and skin.
EDS/HSD are complex syndromes affecting many of the bodies systems. Along with being hypermobile (bendy or double-jointed) other symptoms commonly include but are not limited to: dislocations or partial dislocations, chronic pain, chronic fatigue, dizziness, autonomic dysfunction and digestive disorders.
Due to the nature of the conditions EDS/HSD are often referred to as ‘invisible illnesses’.
Co-morbities of hEDS/HSD
Many of these co-morbities are identified with patients who have hEDS/HSD however, patients with other types of EDS can also have some of these conditions as well as others.
Patients are commonly living with other conditions alongside their hEDS/HSD. Although an association has been demonstrated between hEDS/HSD and most of these co-morbities, there is not yet enough scientific evidence to prove one causes the other. It is unlikely that the relationship will be understood until the gene or genes causing hEDS/HSD are found.
Other conditions linked to EDS/HSD are: Postural Orthostatic Tachycardia Syndrome (PoTs), Mast Cell Activation Disorder, Sleep Disorders, Dental Issues, Gastrointestinal Dysmotility, Bladder Disorders, Autonomic Dysfunction, Cervico-Cranial Instability, Small Fibre Neuropathy, Chronic Fatigue Syndrome and Mental Health conditions such as Anxiety and Depression.
What Does EDS/HSD Look Like?
EDS/HSD affects everyone differently, physically and mentally. No two people will have the exact same experience even if their diagnosis is the same.
Living with EDS/HSD can look like constant chronic pain, dislocations, blood pressure regulatory problems, migraines, sleep disorders, stomach paralysis, fatigue and more.
It can also look like, missed social occasions, weeks stuck inside, losing friends, feeling guilty for how our health affects others, losing out on education, reduced working hours and a life very different to what we once imagined.
EDS/HSD are complex conditions, those living with the conditions are affected so widely by their condition. It is a poorly misunderstood condition and those specialising in the condition(s) have waiting lists over a year long. There isn’t a clear treatment plan for the condition(s) either and funding for research is hugely lacking.
If you would like to know more about EDS/HSD then I would highly recommend the EDS UK website. EDS UK are a brilliant organisation raising awareness for EDS/HSD and supporting the lives of those who are affected by the condition.
I intend on sharing more EDS/HSD related content in the future discussing more in-depth about how EDS/HSD can affect those living with the condition. You can subscribe to my blog here to be notified when I next post so you never miss a blog.
I hope you’re all doing as well as possible, Stay Safe and Stay Home where possible.
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