Ehlers-Danlos Syndrome (EDS) is a multifaceted enigma.
A complex beast.
The poor cousin.
The neglected friend.
It includes a vast range of symptoms that challenge both patients and healthcare professionals alike.
Many of us are scratching our heads…
One of the world’s leading experts in Ehlers-Danlos Syndrome (EDS), Professor Rodney Grahame said, “No other condition in the history of modern medicine, has been neglected in such a way as Ehlers-Danlos Syndrome”.
Many people have overly flexible joints and may be diagnosed with a hypermobility spectrum disorder (HSD), but EDS comes with a whole range of other issues. Rather than being like a spectrum, it really is a constellation (just like you’ve heard me say with being autistic- there is no spectrum, but a constellation).
EDS manifests in diverse ways across its types, each presenting its slightly unique set of challenges and manifestations. Dr. Jessica Eccles, also known as "Bendy Brain," an advocate and educator in the EDS community, emphasizes the intricacies of the condition, stating, "EDS is not just a diagnosis; it's a journey of self-discovery and resilience."
As EDS can often masquerade as a variety of other illnesses, it remains misunderstood and often underdiagnosed. In fact, most EDS patients spend an average of 20 years before finding a diagnosis! ( I figured out I had EDS 5 years ago, and then had that officially confirmed by a clinical geneticist, Dr David Coman).
At the core of EDS lies a fundamental defect in the production and integrity of connective tissues and collagen, the molecular glue that holds the body together. Collagen acts like the “glue" in the body adding strength and elasticity. Our connective tissue is stretchy like chewing gum. This defect is therefore throughout the body, affecting various systems and structures, including skin, joints, ligaments, tendons, organs, and blood vessels. As Dr. Norris notes, "While collagen dysfunction is a hallmark feature of EDS, it's crucial to recognize that the condition extends beyond collagen abnormalities, encompassing a broader spectrum of connective tissue dysregulation."
This text below is directly from the EDS Society website:
"The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders that can be inherited and are varied, both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. Early diagnosis is crucial to positive patient health".
Hypermobile EDS (hEDS) is one of the most prevalent types of EDS. Individuals with hEDS often exhibit joint hypermobility, which means their joints can move beyond the normal range. Joint pain, frequent dislocations and subluxations, fatigue, easy bruising, digestive issues, dizziness, and even bladder control problems can be part of the package. Internationally, the syndrome is believed to affect 1 in every 2,500 to 5,000 people, although there are strong indications that it is actually much more common than this, with many people not reporting their symptoms, or receiving a diagnosis.
EDS comes with what I call many ‘friends’. It doesn’t like to be alone….
It’s common for people with EDS to also have Mast Cell Activation Disorder (MCAS) – symptoms of this disorder include a lack of mental clarity that impacts on learning new information, word finding, cognitive processing and difficulties regulating emotions;
It’s also likely to have symptoms of orthostatic intolerance- Postural Orthostatic Tachycardia Syndrome (POTS) is one form of this. Symptoms include dizziness, feeling faint, especially after getting up quickly, sensitivity to heat, palpitations, chest pain with no heart condition.
There are so many more friends that like to hang out with EDS- the list goes on.
The EDS Society do a much better job than I- have a look at the following key links:
So, from musculoskeletal manifestations such as joint hypermobility, chronic pain, and joint instability to integumentary complications like overly stretchy skin and delayed wound healing, EDS casts a wide net of symptoms that can significantly impact an individual's quality of life. It can affect various organ systems, including musculoskeletal, integumentary, neurological, cardiovascular, digestive, urinary, reproductive, respiratory, and endocrine systems.
To spell this out, and make it easier to read, here it is in bullet points (this list is not exhaustive):
Musculoskeletal (joints, ligaments, muscles, spine, bones, fascia)
Integumentary (skin, mucosa, dental)
Neurological (brain, spine, nervous system, autonomic system, pain, dysautonomia, eyes, ears,)
Cardiovascular (heart, veins, arteries)
Digestive (dysmotility, functional disorders, malabsorption)
Lymphatic (mast cell disorders, immune reactions, drug reactions)
Urinary (bladder incontinence)
Reproductive (periods, endometriosis, pain)
Respiratory (lungs, breathing)
Endocrine (hormones, pituitary, thyroid)
But everyone is different and not everyone will get all the symptoms. And remember that there are different degrees of severity and different types of EDS. Symptoms can come and go in cycles, so it’s very perplexing and not very predictable or stable.
The journey of living with EDS can be rife with challenges, both physical and emotional. It can be a daily battle against fatigue, pain, and other weird and wonderful symptoms. fatigue, and uncertainty. Many of us find solace and solidarity in connecting with others who share similar experiences, though there is a fair amount of misinformation in some of the on-line groups (like on Facebook, for example).
Despite the prevalence of EDS, the condition remains widely misunderstood and underdiagnosed within the medical community. Dr. Grahame, a pioneering expert in EDS, laments, "EDS has long been overshadowed by more well-known medical conditions, leading to a pervasive lack of awareness and understanding among healthcare professionals." This lack of awareness contributes to diagnostic delays and inadequate management strategies, further exacerbating the burden on individuals living with EDS.
In light of these challenges, advocacy and education play a pivotal role in raising awareness and improving outcomes for individuals with EDS. Moving forward, it is imperative to foster collaboration and communication between patients, healthcare professionals, researchers, and policymakers to address the unmet needs of the EDS community. Dr. Casanova states "By working together, we can advance research, improve diagnostic capabilities, and develop tailored management strategies that empower individuals with EDS to live their lives to the fullest."
There is no quick screening test for EDS and the diagnostic criteria changed in 2017. This is causing some confusion, and there is a general lack of information about EDS in the community and amongst health professionals. However, if you are concerned that you or a loved one may have EDS, the first step is to visit your GP who will take a family history and conduct a physical exam using the Beighton Scoring System, which essentially measures joint mobility. If your GP determines that EDS is a possibility, you will be referred to a rheumatologist or geneticist for genetic testing via a blood test. It is worth asking for a medical specialist who specialises in EDS, since EDS can be difficult to diagnose.
Also, ensure that the information you are reading is up to date, as the data is changing all the time. This blog itself might be outdated in a matter of a few months, so please return to the ‘mothership’: https://www.ehlers-danlos.com/
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