From the Guidelines
Confirming Ehlers-Danlos syndrome (EDS) requires a combination of clinical evaluation, genetic testing, and specialized assessments based on the suspected EDS subtype. A comprehensive diagnostic approach typically begins with a detailed medical history and physical examination to identify characteristic symptoms like joint hypermobility, skin hyperextensibility, and tissue fragility. Genetic testing is essential for most EDS subtypes, particularly for hypermobile EDS (hEDS), classical EDS, vascular EDS, and rarer forms. These tests look for specific gene mutations associated with each subtype, such as COL5A1 and COL5A2 for classical EDS or COL3A1 for vascular EDS. For hypermobile EDS, which lacks a specific genetic marker, diagnosis relies on clinical criteria including the Beighton score to assess joint hypermobility (a score of ≥5 out of 9 indicates hypermobility).
Some key points to consider in the diagnosis of EDS include:
- A detailed medical history to identify symptoms and family history of the condition
- Physical examination to assess joint hypermobility, skin hyperextensibility, and tissue fragility
- Genetic testing for specific gene mutations associated with each EDS subtype
- Use of clinical criteria such as the Beighton score for hypermobile EDS
- Additional tests like skin biopsies and cardiovascular imaging may be necessary for certain subtypes. Although the study by 1 provides information on the diagnosis and management of aortic dissection, it does not directly address the diagnostic approach for EDS, highlighting the need to consider a broader range of evidence in forming a diagnostic strategy.
Given the complexity and variability of EDS, a multidisciplinary approach involving geneticists, cardiologists, and other specialists may be necessary to accurately diagnose and manage the condition, particularly in cases where vascular complications are a concern, as noted in the context of aortic dissection 1.
From the Research
Diagnostic Testing for EDS Syndrome
To confirm a diagnosis of EDS syndrome, several tests may be necessary. These include:
- Gene panel testing with massively parallel sequencing, which is currently the gold standard for confirming diagnoses of the monogenic EDS types 2
- A thorough clinical assessment, including medical history, family history, and physical examination, which remains important in the diagnostic process 2
- Skin biopsy with electron microscopy, which can be helpful in deciding whether and when to perform genetic testing 3
- Echocardiography, which may be useful in identifying cardiovascular complications, particularly in patients with vascular or classic EDS 4
Specific Testing for EDS Subtypes
The type of testing required may vary depending on the specific subtype of EDS suspected. For example:
- For hypermobile EDS, routine cardiac evaluation and echocardiography are not required 4
- For vascular EDS, echocardiography and cardiac evaluation are common, but may not always detect cardiovascular complications 4
- For classic EDS, aortic dilation is common, and echocardiography may be useful in detecting this complication 4
Importance of Clinical Assessment
A thorough clinical assessment is essential in the diagnosis of EDS syndrome, as it can help guide management and surveillance, even in cases where a molecular diagnosis is not possible 2, 3