What are the recommended next steps for managing my health with a family history of Ehlers-Danlos syndrome, a personal diagnosis of autism, and recent MRI scans of the brain and cervical spine?

Management of Ehlers-Danlos Syndrome with Autism and Recent Brain/Cervical Spine MRI

Based on your family history of Ehlers-Danlos syndrome (EDS), autism diagnosis, and recent MRI scans, you should undergo genetic testing for EDS and have a comprehensive evaluation by a multidisciplinary team including a clinical geneticist, neurologist, and cardiologist.

Genetic Testing and Diagnosis

• A genetic consultation should be offered to all individuals with suspected EDS, particularly when there is a family history of the condition 1
• Genetic testing is recommended for definitive diagnosis of EDS, particularly for identification of causal variants in vascular EDS (COL3A1) 1
• For patients with autism and suspected genetic conditions like EDS, chromosomal microarray (CMA) is recommended as a first-tier test 2
• Exome sequencing or whole genome sequencing may be appropriate as a first- or second-tier test for individuals with developmental disorders and suspected genetic conditions 2

Neurological Evaluation

• Your recent brain and cervical spine MRI results should be reviewed by a neuroradiologist with expertise in connective tissue disorders 2
• For patients with EDS, MRI findings should be carefully evaluated for potential craniovertebral junction abnormalities, Chiari malformation, or cerebrospinal fluid leaks 3
• Headache is reported in at least one-third of EDS patients, with migraine being the most common type in hypermobility EDS 3
• If your MRI shows normal findings but clinical suspicion remains high for craniovertebral or cervical spine abnormalities, referral to a specialist neuroscience center for further evaluation may be warranted 2

Cardiovascular Assessment

• For patients with suspected vascular EDS, baseline imaging from head to pelvis should be performed to evaluate the entire aorta and branches 1
• Regular vascular surveillance using non-invasive imaging (Doppler ultrasound, CT, or MRI) is recommended for patients with vascular EDS 1
• Non-invasive vascular imaging is strongly preferred over invasive imaging in EDS patients due to the risk of complications 1
• If vascular EDS is confirmed, annual surveillance for dilated or dissected segments is recommended 1

Multidisciplinary Approach

• A multidisciplinary team involving specialists in cardiology, gastroenterology, physical medicine, and genetics is essential for the management of EDS 1
• Regular follow-up with this multidisciplinary team is recommended for all EDS subtypes 1
• For patients with both autism and EDS, coordination between the primary care physician and clinical geneticist is important for ordering, scheduling, and coordinating diagnostic tests 2
• Brain-gut behavioral therapies may be beneficial due to increased rates of anxiety and psychological distress in patients with hypermobility 1

Common Pitfalls to Avoid

• Invasive diagnostic procedures in vascular EDS patients should be avoided due to the risk of fatal complications 1
• Opioid use for chronic pain management, especially in patients with gastrointestinal manifestations, should be avoided 1
• Diagnostic catheter angiography in patients with collagen vascular diseases carries increased risks, and non-invasive imaging should be used whenever possible 1
• Initiating empirical treatments before obtaining definitive diagnosis can lead to inappropriate management 4

Next Steps After MRI

• Review MRI results with a specialist familiar with EDS manifestations 2, 3
• Schedule an appointment with a clinical geneticist for comprehensive evaluation and genetic testing 2, 1
• Consider referral to a cardiologist for cardiovascular assessment if vascular EDS is suspected 1
• Establish a primary care medical home to coordinate care between specialists 2

The combination of EDS and autism requires careful coordination of care across multiple specialties. Your recent MRI scans provide valuable information, but further genetic testing and specialist evaluations are necessary to develop an appropriate management plan tailored to your specific EDS subtype and neurological needs.