From the Guidelines
Individuals with symptoms such as joint hypermobility, soft or velvety skin, and a family history of Ehlers-Danlos syndrome (EDS) should be tested for the condition. According to the diagnostic criteria outlined in the study published in Genetics in Medicine 1, a diagnosis of EDS, hypermobility type, can be established by meeting certain criteria, including a score of 5 or more on the 9-point Beighton scale, which assesses joint hypermobility.
Key Indications for Testing
- Individuals with a family history of EDS, particularly those with a first-degree relative diagnosed with type IV Ehlers-Danlos syndrome, should be considered for screening, as suggested by the guidelines for the management of patients with unruptured intracranial aneurysms 2.
- Those experiencing frequent joint dislocations, unexplained chronic pain, or unusual scarring should seek evaluation.
- Children with developmental delays, early joint problems, or a family history of EDS should be evaluated.
- Adults with multiple seemingly unrelated symptoms affecting joints, skin, and blood vessels should also be considered for testing.
Importance of Early Diagnosis
Early diagnosis of EDS is crucial as it allows for appropriate management strategies, including physical therapy, pain management, and preventive care to reduce complications. Testing is particularly important when symptoms significantly impact daily functioning or when planning surgical interventions, as EDS can affect healing and anesthesia responses.
From the Research
Eligibility for Testing
The following individuals should be considered for testing for Ehlers-Danlos syndrome (EDS):
- Those with clinical features suggesting a monogenic EDS type 3
- Children with suspected EDS who undergo phenotype-guided genetic testing 4
- Individuals with generalized joint hypermobility, poor healing, easy bruising, atrophic scars, skin hyperextensibility, and developmental dysplasia of the hip, as these features have been correlated with a positive molecular result 4
Diagnostic Challenges
- Hypermobile EDS (hEDS) cannot be diagnosed by genetic investigations, as it is unlikely to represent a single gene disorder in the majority of affected individuals 3
- Genetic tests are usually unrewarding for cases of hypermobility that do not suggest a monogenic EDS type 3
Testing Recommendations
- Molecular genetic testing should be used in combination with the 2017 clinical diagnostic criteria in children presenting with EDS characteristics 4
- Skin biopsy with electron microscopy can be helpful in deciding whether and when to perform genetic testing 5
- Different molecular genetic tests, such as EDS panel, microarray, whole exome sequencing, single gene sequencing, and familial variant testing, can be used to confirm a diagnosis of EDS 4