The Ehlers-Danlos syndromes (EDS) are a group of genetic conditions affecting the body’s connective tissue, resulting from collagen defects or defects in the proteins that interact with collagen.
Collagen is the body's most abundant protein and is responsible for being the 'glue' supporting and keeping everything together. It is found in the skin, bones, muscles, tendons, ligaments, eyes, blood vessels, gums, organs and other tissues.
EDS causes the connective tissues to be very fragile and stretchy which causes damage to the body.
There are currently 13 different sub-types of EDS recognised and defined in the 2017 international classification and the most commonly-diagnosed sub-type is Hypermobility Ehlers-Danlos syndrome (hEDS). There is a severity spectrum of EDS ranging from relatively mild to life-threatening.
How do you get it?
Ehlers-Danlos syndrome is most frequently genetic, which means that different types of EDS are caused by faults in certain genes in our DNA related to our connective tissue. Depending on the type of EDS, the faulty gene is most often passed down through families and can either be inherited through either one or both parents. Sometimes the faulty gene isn't inherited, but instead new gene mutations occur for the first time in people with no family history of the condition.
What are the symptoms?
EDS most commonly presents itself with symptoms relating to damage from the fragility of the joints, skin and tissues. Due to the multi-systemic nature of the condition, sufferers are affected differently and each patient's case of EDS will be unique - just as a fingerprint is unique.
Many people with the Ehlers-Danlos syndromes may 'look' healthy on the outside, making the disorder largely 'invisible'. Symptoms can manifest over time and can become chronic, disabling and life-threatening:
Many doctors are unaware that EDS exists. Many patients go years without any specialist recognising the primary link between seemingly disconnected symptoms.
How many people does it affect?
Currently, research of the Ehlers-Danlos syndromes show it affects 1 in 2,500 to 1 in 5,000 people worldwide. However, new clinical studies suggest that the prevalence of this ‘rare’ condition may be more common, especially with the more common hEDS sub-type, possibly affecting at least 1% of the U.K. population.
Other sub-types of the Ehlers-Danlos syndrome can be considered rare, often with only a few cases of affected families recorded in medical literature.
Lack of awareness of EDS and lack of funding leads many sufferers to be misdiagnosed or undiagnosed.
Is there a cure?
There is no cure for the Ehlers-Danlos syndromes.
A delay to diagnosis causes unnecessary suffering, irreversible damages to the body that could potentially cause disabling and life-threatening complications.
That is why an early diagnosis is paramount.
The earlier EDS can be diagnosed, the sooner:
- measures can be initiated to prevent further permanent irreversible damage to joints and ligaments
- evaluation risks of potential organ dissection or rupture can be investigated
- identification of other co-occurring conditions and disorders can be treated and managed