The path to an EDS/HSD diagnosis starts with an examination. This usually includes physical testing:
- An assessment of hypermobility using the Beighton Scale to assess how mobile the joints are
- A search for abnormal scarring and testing the skin to determine what it feels like and how much it stretches
- There’s likely to be a look into your medical history to look for conditions and problems associated with EDS/HSD, and a discussion of your family to help determine if an EDS/HSD was inherited.
- Additional tests the physician feels are needed.
If you believe that you, or someone you know, has one of the Ehlers-Danlos syndromes (EDS) or hypermobility spectrum disorders (HSD), you should ask your doctor to compare your symptoms to the new diagnostic criteria.
If an immediate family member has been diagnosed with one of the Ehlers-Danlos syndromes or HSD, it is important they have a medical evaluation if they are also symptomatic and experiencing problems. If a diagnosis of vascular EDS has been made then all immediate family members should be tested as soon as possible.
Most medical doctors should be able to diagnose EDS/HSD. However, because the Ehlers-Danlos syndromes are genetic disorders, primary care physicians often provide their patients with referrals to a geneticist.
Geneticists have specialized experience in determining which testing is necessary to differentiate EDS/HSD from the more than 200 other heritable connective tissue disorders.
Early diagnosis is important—to everyone
At the present time, EDS/HSD are not curable, but they are treatable. Early diagnosis is important. When patients and their medical team know which type of EDS or HSD they are dealing with, they can determine the proper course of treatment, therapy, and lifestyle adjustments necessary to build a healthy, happy, and productive life.
Diagnosis determines type
Diagnosis of an EDS subtype comes by finding the one that most matches the patient’s symptoms. There are clinical criteria, available in the papers here, that help guide diagnosis; your signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including HSD, as well as a lot of variability between them. So a definitive diagnosis for all the EDS subtypes—except for hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype. These molecular testing results also provide the basis for genetic counseling for our families, guidance on treatment options for ourselves, and help in reaching research goals.
Hypermobile EDS, Physical Examination, and Family History
The genetic basis for hypermobile EDS is still unknown. An hEDS (or HSD) diagnosis rests on the criteria, physical examination, and quite often, a detailed family history. The 2017 hEDS criteria establishes serious consideration of joint hypermobility with all related symptoms and conditions, with hEDS at one end of the spectrum. HSD can be no less consequential than hEDS, either to your health or concern for treatment; please the see the paper here that described the HSD.
As more of people are diagnosed, EDS/HSD gain the attention necessary to increase the likelihood that expanded research might eventually lead to finding that cure.
Our strength begins with hope.
The diagnostic criteria to each of the 13 EDS subtypes can be found here.
Also see the hEDS diagnostic checklist.