From the Guidelines
Ehlers-Danlos syndrome (EDS) testing should be considered in a patient who had a stroke of unclear etiology, especially if they have other signs or symptoms suggestive of EDS, as it can guide management strategies and prevent future events. The most recent and highest quality study, 1, provides recommendations for diagnostic evaluation in patients with stroke or transient ischemic attack, but does not specifically address EDS testing. However, considering the potential risks and benefits, a thorough clinical evaluation and genetic testing may be warranted.
Here's a recommended approach:
- Perform a thorough clinical evaluation:
- Assess for joint hypermobility using the Beighton score
- Look for skin hyperextensibility and easy bruising
- Check for other EDS-related features like chronic pain or recurrent joint dislocations
- Order genetic testing:
- Start with a targeted gene panel for the most common EDS subtypes
- If negative, consider whole exome sequencing
- Additional tests:
- Echocardiogram to assess for cardiac involvement
- Vascular imaging (CT or MR angiography) to look for arterial abnormalities
- Consult specialists:
- Refer to a geneticist for comprehensive evaluation and counseling
- Consider referrals to cardiology and vascular surgery for management of potential complications
Justification: EDS, particularly the vascular type, can predispose patients to arterial dissections and aneurysms, which can lead to stroke, as noted in 1 and 1. Identifying EDS as the underlying cause of a stroke can guide management strategies, including more aggressive monitoring for vascular complications and consideration of prophylactic interventions to prevent future events. Early diagnosis also allows for screening of family members who may be at risk.
From the Research
Role of Ehlers-Danlos Syndrome Testing in CVA or Stroke of Unclear Etiology
- The primary goal in a patient with a cerebrovascular accident (CVA) or stroke of unclear etiology is to identify the underlying cause among various potential differential diagnoses, in order to optimize secondary prevention 2, 3.
- Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder that can increase the risk of cerebrovascular complications, including spontaneous cervical artery dissection and intracranial aneurysms 4, 5, 6.
- Vascular EDS is associated with a high risk of arterial complications, including those affecting the supra-aortic trunks, which can lead to stroke or transient ischemic attack 5.
- Testing for EDS may be considered in patients with a CVA or stroke of unclear etiology, particularly if they have a family history of the condition or other features suggestive of EDS, such as joint hypermobility or skin hyperextensibility 4, 6.
- However, the diagnosis of EDS is complex and requires a comprehensive evaluation, including clinical assessment, imaging studies, and genetic testing 4, 5, 6.
- In patients with EDS, the management of cerebrovascular complications requires a multidisciplinary approach, including neurology, cardiology, and vascular surgery, to optimize prevention and treatment of stroke and other cardiovascular events 2, 3.