Diagnosis of EDS
There are currently 13 different subtypes of Ehlers-Danlos syndrome, each with slightly different symptoms and clinical criteria to help guide diagnosis.
A diagnosis is important due to several reasons:
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Although EDS is not curable, they are treatable. Knowing the type of EDS can give you and your medical team more insight into where problems might come from and why they’re happening.
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When eventually there is a cure, you will know how to use it.
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As more cases of EDS are diagnosed, it will gain the attention that all of us need, increasing the likelihood of expanded research that might lead to finding that cure.
How do I know if I have EDS?
1) Take the Beighton Test
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The Beighton Test is a useful gauge in determining the presence of joint hypermobility, which may indicate the possibility of certain subtypes of EDS. While taking the test, take note of the sources of joint hypermobility.
Generalized Joint Hypermobility: Classical EDS, Classical-Like EDS, hypermobile EDS, Arthrochalasia EDS, Kyphoscoliotic EDS, Cardio-Valvular EDS
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2) Assess the symptoms
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Search for abnormal scarring, and test for your skin to determine what it feels like and how much it stretches. If parts of your skin are able to stretch beyond a certain limit, you may have hyperextensible skin.
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3) Talk to a doctor
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If you think you may be suffering from some form of EDS, pay a visit to your family general practitioner. He/She will be able to provide you with more insight into your condition and refer you to the proper experts. Share your knowledge with your doctor the best you can; your doctors have most likely never come across such a disorder before.
Method of Diagnosis
As of today, detailed clinical criteria have been put in place to aid the diagnosis of an individual.
However, due to the considerable symptom overlap between EDS subtypes as well as other HDCTs, it is often challenging to identify the EDS subtype of the individual via their symptoms alone.
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In order to obtain a definite diagnosis, the gene mutation responsible for the disorder must be identified via genetic testing from a geneticist.
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However, for those who meet the clinical criteria, but have no access to genetic confirmation, a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and molecular testing should be considered.
Inheritance Pattern (IP): Describes how a disease is inherited in families, used to predict recurrence risk of disease in relatives
Autosomal Recessive (AR): Two copies of an abnormal gene must be present in order for the disease to be inherited.
Autosomal Dominant (AD): Only one copy of the abnormal gene must be present in order for the disease to be inherited.
Genetic Basis: Gene mutation responsible for the Disorder