What is the management approach for a 16-year-old female with Ehlers-Danlos syndrome hypermobility, trivial mitral valve prolapse, hip pain, back pain, fatigue, easy bruising, and exertional dyspnea?

Management of Hypermobile EDS in a 16-Year-Old Female with Multisystem Symptoms

This patient requires a structured multidisciplinary approach prioritizing cardiovascular surveillance, musculoskeletal rehabilitation, and evaluation for autonomic dysfunction (POTS), while avoiding opioids and invasive procedures. 1

Immediate Cardiovascular Management

Repeat echocardiography every 2-3 years until adult height is reached since the patient has trivial mitral valve prolapse without regurgitation and normal aortic root size. 1 If cardiovascular symptoms worsen or major increases in physical activity are planned, perform echocardiography sooner. 1

• No beta-blocker therapy is indicated at this time given the absence of aortic root dilation. 1
• The trivial mitral valve prolapse requires monitoring but does not necessitate activity restriction or antibiotic prophylaxis. 1

Evaluation of Exertional Dyspnea

Perform postural vital signs testing immediately to screen for POTS, measuring heart rate increase ≥40 beats/min (in adolescents 12-19 years) within 10 minutes of standing without orthostatic hypotension. 1, 2

• The exertional dyspnea may represent POTS rather than cardiac pathology, given the normal echocardiogram and high prevalence of autonomic dysfunction in hEDS. 1
• If postural vital signs are positive, refer to cardiology or neurology for head-up tilt table testing and autonomic function assessment. 1
• Do not attribute dyspnea solely to deconditioning without ruling out POTS, as this is a common pitfall in hEDS patients. 1

Musculoskeletal Pain Management

Initiate low-resistance exercise and physical therapy as the cornerstone of treatment for hip and back pain. 1, 3

• Physical therapy should focus on improving joint stability by increasing muscle tone through therapeutic exercise and motor function training. 1, 3
• Myofascial release techniques are often necessary before patients can participate effectively in low-resistance exercise programs. 1
• Avoid high-impact activities that may worsen joint instability and pain. 1
• Consider vitamin C supplementation as a cofactor for collagen cross-linking, which may improve hypermobility. 1

Refer to a pain management specialist for chronic pain that does not respond to physical therapy and conservative measures. 1, 4

• Absolutely avoid opioids for chronic pain management in this patient population, as they worsen gastrointestinal symptoms and do not address the underlying pathophysiology. 5
• Neuropathic modulators (gabapentin, pregabalin) can be considered but are poorly tolerated in 47% of EDS patients. 6
• Occupational therapy and bracing show 70% improvement rates and should be prioritized. 6

Management of Easy Bruising

Obtain baseline laboratory studies including complete blood count to exclude hematologic causes of easy bruising. 2

• Easy bruising is a minor diagnostic criterion for hEDS and typically does not require specific intervention unless bleeding complications occur. 1
• Ensure adequate vitamin C intake, as deficiency can worsen connective tissue fragility. 1

Fatigue Management

Screen for common comorbidities that contribute to fatigue in hEDS patients:

• Evaluate for POTS (as above), which commonly causes fatigue. 1
• Consider celiac disease serological testing, as it should be performed earlier in hEDS patients with any symptoms. 2
• Assess for vitamin D deficiency and ensure adequate calcium and vitamin D supplementation. 1
• Screen for anxiety and depression, which are highly prevalent in hEDS and contribute to fatigue. 1, 7

Gastrointestinal Symptom Surveillance

Inquire specifically about gastrointestinal symptoms, as up to 98% of hEDS patients develop GI manifestations. 2

• Ask about reflux, abdominal pain (especially postprandial), constipation, and functional bowel symptoms. 1
• If GI symptoms are present, treat symptomatically with proton pump inhibitors for reflux, promotility agents for delayed gastric emptying, and antispasmodics/laxatives for irritable bowel symptoms. 1
• Do not routinely test for mast cell activation syndrome (MCAS) unless the patient presents with episodic multisystem symptoms involving ≥2 physiological systems (flushing, urticaria, wheezing). 1, 2

Psychological Support

Provide or refer for psychological support and brain-gut behavioral therapies, as anxiety and psychological distress are common in hEDS patients and significantly impact quality of life. 1, 8, 5

• Cognitive behavioral therapy has demonstrated benefit in managing chronic pain and improving function. 9, 7
• Address the psychological impact of living with a chronic condition, particularly in an adolescent. 3

Bone Health

Encourage calcium and vitamin D supplementation and low-impact weight-bearing exercise to optimize bone density. 1

• Order DXA scan only if height loss greater than one inch occurs. 1

Activity Recommendations

Recommend low-resistance exercise and swimming as preferred activities that improve muscle tone without excessive joint stress. 1

• Avoid contact sports and activities with high risk of joint dislocation or trauma. 1
• Delay orthopedic surgery if possible in favor of physical therapy and bracing, as surgical outcomes are generally poorer in EDS patients with decreased stabilization and shorter duration of improvement. 1

Critical Pitfalls to Avoid

• Never perform invasive diagnostic procedures unnecessarily, as tissue fragility increases complication risk. 8
• Do not prescribe opioids for chronic pain management. 5
• Do not attribute all symptoms to EDS without evaluating for treatable comorbidities like POTS, celiac disease, or vitamin deficiencies. 1, 2
• Do not order routine genetic testing for hEDS, as no causative genes have been identified. 2

Follow-Up Schedule

• Echocardiography every 2-3 years until adult height reached. 1
• Regular follow-up with primary care to coordinate multidisciplinary care. 7
• Physical therapy reassessment every 4-6 weeks to adjust exercise prescription. 3
• Annual comprehensive review of all systems to identify new manifestations. 1