From the Guidelines
The initial evaluation for suspected Ehlers-Danlos Syndrome (EDS) should include a thorough physical examination, detailed personal and family history, and targeted testing based on the suspected subtype, with a focus on joint hypermobility assessment using the Beighton score for hypermobile EDS (hEDS) 1. The diagnosis of EDS relies on a combination of clinical criteria and genetic testing, with the Beighton score being a crucial tool for assessing joint hypermobility in hEDS.
- Key components of the initial evaluation include:
- Physical examination to assess joint hypermobility, skin characteristics, and systemic manifestations
- Detailed personal and family history to identify potential genetic patterns and systemic involvement
- Beighton score assessment for hEDS diagnosis
- Genetic testing for classical and vascular EDS, targeting specific genes such as COL5A1/COL5A2 and COL3A1, respectively
- Additional tests, such as echocardiography, skin biopsy with electron microscopy, and imaging studies (e.g., MRI or CT scans), may be necessary to assess cardiac involvement, collagen abnormalities, and organ involvement. For example, a study published in Genetics in Medicine 1 outlines the major diagnostic criteria for EDS, hypermobility type, which includes joint hypermobility confirmed by a score of 5 or more on the 9-point Beighton scale. In contrast, another study published in the European Heart Journal 1 discusses the diagnosis and management of aortic dissection, which may be relevant to vascular EDS patients, but is not directly applicable to the initial evaluation of suspected EDS. Therefore, a comprehensive approach combining clinical assessment and targeted testing is essential for accurate diagnosis and management of EDS, with a focus on the most recent and highest-quality evidence 1.
From the Research
Initial Evaluation Tests for Suspected Ehlers-Danlos Syndrome (EDS)
The following tests may be considered during an initial evaluation of suspected EDS:
- Echocardiogram to measure aortic root diameter and assess valvular condition 2, 3, 4, 5
- Assessment of bone mineral density to identify osteoporosis 3
- Physical examination to evaluate skin hyperextensibility, joint hypermobility, and tissue fragility 3
- Beighton score assessment to quantify joint hypermobility 3
- Cardiovascular evaluation to detect potential cardiac defects or abnormalities 4
Specific Considerations
- Patients with hypermobile EDS (hEDS) may not require routine echocardiograms, as the prevalence and progression of aortic root dilation are low in this population 5
- Genetic testing, such as high-resolution melting curve analysis and small amplicon genotyping, may be used to detect COL3A1 mutations in patients with suspected vascular EDS 6
- A comprehensive medical history and physical examination are essential to identify common features of EDS, such as premature rupture of membranes, prematurity, neonatal hypotonia, and congenital hip dislocation 3