Managing Ehlers Danlos Syndrome and Hypermobility Spectrum Disorders
What are the Ehlers-Danlos Syndromes (EDS)?
The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that cause poorly structured or 'weaker' collagen. In EDS there are genetic faults in the way that collagen &/or some collagen-related proteins are made. Collagen is everywhere in our bodies, so symptoms can be very widespread, affecting tissues, organs, bones, ligaments, tendons, lymphatic vessels etc. Depending on the genetic fault, different tissues and organs can be affected, which is why there are several subtypes.
Subtypes of EDS
There are thirteen subtypes of EDS:
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Arthrochalasia EDS (aEDS)
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Brittle Cornea Syndrome (BCS)
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Cardiac-valvular EDS (cvEDS)
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Classical EDS (cEDS)
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Classical-like EDS (clEDS)
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Dermatosparaxis EDS (dEDS)
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Hypermobile EDS (hEDS)
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Muscularcontractural EDS (mcEDS)
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Myopathic EDS (mEDS)
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Peridontal EDS (pEDS)
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Kyphoscoliotic EDS (kEDS)
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Spondylodysplastic EDS (spEDS)
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Vascular EDS (vEDS)
What does the Zebra mean in EDS and HSD?
There are a few meanings:
1) Medical students are usually taught this:
“When you hear hoofbeats behind you, don’t expect to see a zebra"
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Essentially meaning to always look for the most common diagnosis
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However EDS and HSD ARE the unexpected, rarer diagnoses
Therefore “Sometimes when you hear hoofbeats, it really is a zebra”
2) From afar all zebras look the same, BUT if you look closer their stripes aren't identical.
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Just like no two people with EDS/HSD will have exactly the same types, symptoms and experiences
3) A group of zebras is called a dazzle.
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With this supportive community and shared awareness, Together we dazzle!
Prevalence of EDS
The overall prevalence of the Ehlers-Danlos syndromes is between 1 in 3,500 to 1 in 5,000 people.
The hypermobile variant (hEDS) is by far the most common type and often may be missed or misdiagnosed as something else.
Most Ehlers-Danlos Syndromes are rare (e.g. 1 in 40,000 – 200,000), and some are ultra-rare (e.g. less than 1 in a million people).
Ehlers-Danlos Syndromes are inherited and they can be passed down by either dominant or recessive autosomal patterns.
Symptoms of EDS
Symptoms will vary between each subtype of EDS, but also individuals with the same subtype often can experience very different and dissimilar symptoms.
Whilst not an exhaustive list, here are some typical symptoms:
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Hyperextensions of several joints
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Frequent subluxations and dislocations of joints
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Joint and muscle pain
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Clicking joints
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Variable mobility
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Chronic fatigue
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Easy bruising
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Stretchy skin
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Poor wound healing
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Digestive issues
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Issues with internal organs
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Fragile blood vessels
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Bladder issues
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Curvature of the spine
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Dysautonomia / dizziness upon standing
What are Hypermobility Spectrum Disorders? (HSD)
Hypermobility Spectrum Disorders (HSD) are a group of conditions related to joint hypermobility, which is the capability of joints to move beyond the normal range of motion.
Along the continuum fall these four types:
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Generalised (joint) HSD (G-HSD)
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Peripheral (joint) HSD (P-HSD)
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Localised (joint) HSD (L-HSD)
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Historical (joint) HSD (H-HSD)
HSD are diagnosed after other possible conditions have been excluded, such as any of the Ehlers-Danlos syndromes (EDS) including hypermobile EDS (hEDS).
The difference between HSD and hEDS is merely by stricter diagnostic criteria, however both can be equal in severity. They require similar management strategies, validation, and care.
Prognosis of Ehlers-Danlos Syndromes (EDS) and HSD
Diagnosis of Ehlers-Danlos Syndromes are based on the 2017 diagnostic criteria which look at a patient's symptoms and align them to the according major or minor criteria to fit a certain subtype.
For all EDS types apart from hEDS, testing exists to identify the responsible variant for the gene affected in each subtype. hEDS is therefore diagnosed as a 'clinical diagnosis' based on meeting pre-requisites
in the criteria. Whilst there is no cure for Ehlers-Danlos Syndromes, there are management strategies which can improve quality of life.
Next steps if you suspect them
Diagnosis of EDS and HSD is typically through a rheumatologist, however other specialists in fields where symptoms overlap may have knowledge and awareness and be able to diagnose or refer
over to rheumatology.
You may suspect EDS/HSD and need to advocate for a referral from your primary care provider or General Practitioner (GP) for further investigations. You can find this GP toolkit here.
For many more resources and support:
The Ehlers-Danlos Society
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Misconceptions about Ehlers-Danlos Syndromes (EDS) DEBUNKED
There are several misconceptions about Ehlers Danlos Syndromes and Hypermobility Spectrum Disorders, so across these image graphics you can learn more and educate yourself further.
How can EDS or HSD affect daily life?
Symptoms can vary and be very unpredictable. EDS and HSD can be disabling and create a huge myriad of issues with multiple triggers. Below you can find examples (whilst not an exhaustive list).
Cervical Instability
Triggers:
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turning neck side-to-side
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bending forwards
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jumping
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going up stairs or up hill
Shoulder, Wrist, Hand & Finger Instability
Triggers:
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lifting anything
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opening heavy doors
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pressing buttons / typing
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side sleeping
Pelvic Instability
Triggers:
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sitting down
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twisting
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crossing legs
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any slight movement
Digestive Issues
Triggers:
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many different foods
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co-morbidities include food allergies or sensitivities, MCAS, IBS and gastroparesis
Chronic Fatigue
Triggers:
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any physical activity
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specific foods
Dysautonomia (autonomic dysfunction)
Triggers:
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standing up from sitting
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changes in temperature
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eating
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exercise