What is the best management approach for a 16-year-old patient with newly diagnosed hypermobile Ehlers-Danlos syndrome (hEDS) and chronic pain involving multiple joints?

PT/OT Referral Note for 16-Year-Old with Newly Diagnosed hEDS and Chronic Multi-Joint Pain

Primary Referral Indication

This patient requires immediate initiation of low-resistance exercise and physical therapy with myofascial release techniques to improve joint stability through increased muscle tone, which is the cornerstone of hEDS management and provides robust benefits for pain, sleep, fatigue, and daily functioning. 1

Critical Management Priorities for PT/OT

Exercise Prescription Requirements

• Initiate low-resistance strengthening exercises as the primary intervention to stabilize hypermobile joints through improved muscle tone 2, 1
• Focus on proprioceptive training and coordination exercises, as patients with hEDS commonly experience proprioceptive and coordination deficits resulting in functional restrictions 3
• Avoid high-impact activities and exercises that stress joints into end-range positions, as these increase risk of subluxation and dislocation 3
• Progress slowly with careful monitoring, as many hEDS patients report iatrogenic injuries from inappropriate interventions that are too aggressive 3

Myofascial Release and Manual Therapy

• Physical therapy with myofascial release techniques is often necessary before patients can participate in exercise programs due to chronic muscle tension and pain 1
• Manual therapy should focus on reducing muscle guarding and improving tissue mobility without overstretching already hypermobile joints 3

Joint Protection Education

• Teach joint protection strategies to prevent subluxations and dislocations during daily activities 3, 4
• Educate on proper body mechanics and positioning to minimize joint stress 3
• Consider bracing for unstable joints, as orthopedic surgery should be delayed in favor of conservative management due to decreased outcomes in hEDS patients 1

Pain Management Context

Current Pain Profile

• This patient presents with chronic multi-joint pain, which affects 43% of hEDS patients at severe levels 5
• Chronic pain in hEDS is multifactorial, including musculoskeletal pain, neuropathic components, and potential fibromyalgia overlap 6

Concurrent Pharmacological Management

• Low-dose amitriptyline (10-25 mg at bedtime, titrating to 75-100 mg if tolerated) is being initiated for neuropathic pain components and sleep promotion 2
• Gabapentin may be added if needed, titrating to 2400 mg daily in divided doses for neuropathic pain 1
• NSAIDs are contraindicated as they worsen gastrointestinal symptoms common in hEDS 2, 1

Psychological Support Integration

• Cognitive Behavioral Therapy (CBT) should be implemented concurrently with physical therapy for chronic pain management, as it promotes adaptive behaviors and addresses the high rates of anxiety and psychological distress in hEDS patients 2, 1
• Thoughts of helplessness increase likelihood of severe pain in hEDS patients, making psychological intervention critical 5

Red Flags and Monitoring Needs

Cardiovascular Screening

• Echocardiogram has been ordered to evaluate for aortic root dilation, which occurs in 25-33% of hypermobile EDS patients 7, 1
• If aortic root is normal, repeat echocardiogram every 2-3 years until adult height is reached 7, 1

Autonomic Dysfunction

• Screen for Postural Orthostatic Tachycardia Syndrome (POTS) by measuring postural vital signs with active stand test (heart rate increase ≥40 beats/min in adolescents within 10 minutes of standing) 2, 1
• If POTS confirmed, increase fluid and salt intake, recommend compression garments, and modify exercise accordingly 1

Gastrointestinal Symptoms

• Monitor for functional bowel disorders, gastritis, and reflux, which are common minor diagnostic criteria for hEDS 7
• Up to 98% of hEDS patients experience gastrointestinal manifestations 1

Critical Pitfalls to Avoid in PT/OT

Exercise-Related Injuries

• Never prescribe aggressive stretching programs, as joints are already hypermobile and further stretching increases instability 3
• Avoid high-repetition exercises that fatigue muscles protecting unstable joints 3
• Do not progress resistance too quickly, as this commonly causes flares and setbacks 3

Surgical Considerations

• Orthopedic surgery should be delayed in favor of physical therapy and bracing due to decreased stabilization and pain reduction outcomes compared to non-EDS patients 1
• If surgery becomes necessary, coordinate with orthopedic surgeon experienced in connective tissue disorders 1

Expected Outcomes and Timeline

Realistic Goals

• Improvement in joint stability and reduction in subluxation frequency over 3-6 months 1
• Gradual increase in functional capacity and reduction in mobility disability, which affects 65% of hEDS patients 5
• Pain reduction through improved muscle support and proprioception, though complete pain resolution is uncommon 8, 6

Long-Term Management

• This is a chronic condition requiring ongoing multidisciplinary management including pain management, physical therapy, psychology/psychiatry, gastroenterology, and cardiology specialists 2
• Regular follow-up to assess effectiveness and adjust interventions as needed 2

Additional Considerations for Adolescent Patient

• Diagnostic delay increases likelihood of severe pain, so early intervention with this newly diagnosed patient is critical 5
• Fatigue is a significant factor affecting function and should be addressed in therapy planning 5, 4
• Body mass index should be monitored, as it predicts mobility disability in hEDS patients 5
• Nutritional counseling may be beneficial to prevent restrictive eating patterns common in hEDS 1