Management Approach for Ehlers-Danlos Syndrome
The management of Ehlers-Danlos Syndrome (EDS) requires a multidisciplinary team approach with regular monitoring and personalized interventions based on the specific subtype and affected organ systems.
Diagnostic Evaluation
- Genetic testing is essential for all suspected cases of EDS
Core Multidisciplinary Team Components
The multidisciplinary team for EDS management should include:
- Geneticist/genetics provider for ongoing monitoring and coordination
- Primary care physician for regular follow-up and coordination
- Cardiologist for cardiovascular monitoring
- Neurologist for neurological manifestations
- Dermatologist for skin and tissue manifestations
- Physical/occupational therapists for musculoskeletal issues
- Mental health professionals for psychological support
Cardiovascular Management
- Regular cardiovascular assessment is critical, particularly for vascular EDS
- Baseline imaging with MRI or CT from head to pelvis to evaluate the entire aorta and branches 1
- Annual surveillance imaging for dilated or dissected segments
- Imaging every 2 years when initial imaging is normal 1
- Medical therapy includes:
- Education about risks
- Lifestyle modification
- Beta blockers (particularly those with vasodilatory properties) 1
- Avoidance of invasive procedures when possible
Musculoskeletal Management
- Physical therapy with specific attention to hypotonia and gross motor delays 1
- Occupational therapy focusing on:
- Hypotonia
- Sensory integration
- Vision concerns 1
- Regular assessment of joint stability and mobility
Dermatological Care
- Frequent dermatology visits for management of skin manifestations 1
- Meticulous skin care and early treatment of skin infections
- Annual evaluation of pigmented nevi if present
- Referral to podiatrist for nail dystrophy if needed
Neurological Management
- Baseline neurological evaluation
- Brain MRI if indicated by symptoms
- EEG if seizure activity is suspected 1
- Ongoing follow-up for seizure management if present
Gastrointestinal Management
- Nutritional assessment and growth measurements
- Referral to gastroenterologist for feeding difficulties, reflux, or poor growth
- Consider feeding therapy evaluation for difficulties
- Regular follow-up to monitor growth and nutrition 1
Pregnancy Management
- Pre-conception genetic counseling
- High-risk obstetric care
- Careful delivery planning, particularly for vascular EDS
- Cesarean delivery often preferred for vascular EDS 1
Surgical Considerations
- Surgical repair in vascular EDS carries increased risk due to tissue fragility 1
- Indications for intervention include:
- Rapid arterial aneurysm growth
- Occurrence of dissection
- Decision to intervene requires shared decision-making with multidisciplinary team 1
- Meticulous surgical technique to minimize tissue trauma
Long-term Monitoring
- Annual follow-up with geneticist/genetics provider or specialty clinic 1
- Regular monitoring of previously identified issues
- Periodic reassessment for new manifestations
- Educational support for patients and caregivers
Patient Education and Support
- Personalized medical information cards may be useful 1
- Connection to patient support groups
- Education about lifestyle modifications
- Written summaries and visual aids to illustrate major points 1
Special Considerations
- Features in an affected parent do not predict findings in affected offspring 1
- Genetic diagnosis and counseling are helpful at any age 1
- Repetition and reinforcement of information is important for patient understanding
The management of EDS is complex and requires coordination between multiple specialists. Early diagnosis, regular monitoring, and prompt intervention for complications are essential for optimizing outcomes and quality of life.