How should I evaluate and manage suspected hypermobile Ehlers‑Danlos syndrome in an elderly patient with joint hypermobility, chronic musculoskeletal pain, frequent subluxations, and autonomic symptoms?

Evaluation and Management of Hypermobile Ehlers-Danlos Syndrome in Elderly Patients

Begin with clinical diagnosis using the 2017 diagnostic criteria for hypermobile EDS (hEDS), as no genetic test exists for this subtype, and prioritize a multidisciplinary approach centered on physical therapy, pain management without opioids, and screening for life-threatening autonomic and gastrointestinal complications. 1

Initial Diagnostic Assessment

Joint Hypermobility Evaluation

• Apply the Beighton scale systematically, scoring each of the following (maximum 9 points): 1
  • Passive dorsiflexion of fifth fingers beyond 90° (1 point per hand)
  • Passive thumb apposition to flexor forearm surface (1 point per hand)
  • Elbow hyperextension beyond 10° (1 point per side)
  • Knee hyperextension beyond 10° (1 point per side)
  • Forward bend with palms flat on floor while knees remain extended (1 point)
• For elderly patients over 50 years, a score ≥4/9 meets criteria (compared to ≥5/9 for younger adults), as joint laxity naturally decreases with age 1

Skin and Connective Tissue Examination

• Assess for soft, velvety, or hyperextensible skin by gently pulling skin on the volar forearm 1
• Document patterns of easy bruising, abnormal scarring (atrophic or widened), and tissue fragility 1
• Perform Wood's lamp examination to exclude other connective tissue disorders 1

Critical Cardiovascular Screening

• Order echocardiography immediately to evaluate aortic root diameter, as 25-33% of hEDS patients develop aortic root dilation 1, 2
• If aortic root is normal, repeat echocardiogram every 2-3 years 2
• If diameter exceeds 4.5 cm or grows >0.5 cm/year, increase monitoring to every 6 months 1

Essential Screening for Common Comorbidities

Autonomic Dysfunction (POTS)

• Measure postural vital signs with active stand test: document heart rate increase ≥30 beats/min within 10 minutes of standing without orthostatic hypotension 1, 3, 2
• POTS affects up to 37.5% of hEDS patients and significantly impacts quality of life 1
• If positive, refer for tilt table testing and expanded autonomic function assessment 1

Gastrointestinal Manifestations

• Recognize that up to 98% of hEDS patients experience GI symptoms, including reflux, abdominal pain (especially postprandial), and constipation 4, 1
• Order celiac disease serological testing early, as risk is elevated compared to general population 1, 3, 2
• For chronic upper GI symptoms (nausea, early satiety), order gastric emptying scintigraphy, as abnormal gastric emptying is more common in hEDS/POTS than the general population 3, 2
• For incomplete evacuation symptoms, consider anorectal manometry, balloon expulsion test, or defecography given high prevalence (up to 50%) of pelvic floor dysfunction 2

Mast Cell Activation Syndrome (MCAS)

• Only test for MCAS if patient presents with episodic multisystem symptoms involving ≥2 physiological systems (flushing, urticaria, wheezing, anaphylaxis-like episodes) 1, 3, 2
• Do not perform routine MCAS testing for isolated GI symptoms or fatigue alone 1, 2
• If indicated, obtain baseline serum tryptase and repeat 1-4 hours following symptomatic flare; diagnostic threshold is 20% increase above baseline plus 2 ng/mL 1, 2

Bone Health in Elderly Patients

• Order DXA scan if height loss exceeds 1 inch to screen for osteoporosis 1, 2
• Recommend calcium and vitamin D supplementation 2

Core Management Strategies

Physical Therapy (First-Line Treatment)

• Prescribe low-resistance exercise programs to improve joint stability through increased muscle tone 2, 5, 6
• Combine with myofascial release techniques, as these are often necessary to facilitate participation in exercise programs 2, 6
• Delay orthopedic surgery in favor of physical therapy and bracing, as surgical outcomes show decreased stabilization and pain reduction compared to patients without hEDS 2

Pain Management (Avoid Opioids)

• Start with gabapentin, titrating to 2400 mg daily in divided doses for neuropathic pain components 2
• Consider tricyclic antidepressants (amitriptyline 75-100 mg) or SNRIs as alternatives 2
• Pregabalin 75-300 mg every 12 hours can substitute for gabapentin 2
• For abdominal pain specifically, use antispasmodics (hyoscyamine, dicyclomine, peppermint oil) 2
• Never prescribe opioids for chronic or abdominal pain in hEDS patients 1, 3, 2
• Avoid NSAIDs as they worsen gastrointestinal symptoms 2
• Acetaminophen is safe and can be used 2

POTS Management

• Increase fluid intake to 2-3 liters daily and salt intake to 10-12 grams daily for volume expansion 3
• Prescribe lower body compression garments (30-40 mmHg) to wear during upright activities to reduce venous pooling 3
• Consider pharmacological treatments (fludrocortisone, midodrine, beta-blockers) for those not responding to conservative measures 2

Gastrointestinal Symptom Management

• For gastroparesis: metoclopramide 5-10 mg three times daily before meals as first-line prokinetic 3
• Implement gastroparesis diet: small, frequent meals (5-6 per day), low fat (<40 g/day), low fiber, with liquid calories prioritized 3
• For reflux: proton pump inhibitors, H2-blockers, or sucralfate 2
• All dietary interventions must include nutritional counseling to avoid restrictive eating patterns and development of avoidant/restrictive food intake disorder (ARFID) 3, 2

Psychological Support

• Implement cognitive behavioral therapy (CBT) for chronic pain management, promoting patient acceptance and development of adaptive behaviors 2
• Recognize that anxiety and psychological distress are common, mediated by autonomic dysfunction, with CBT response rates up to 70% 2
• Consider yoga for chronic neck/back pain, headache, and general musculoskeletal pain 2

Critical Pitfalls to Avoid

Diagnostic Errors

• Do not confuse visceral hypersensitivity with true small bowel dysmotility in hEDS patients; most have hypersensitivity rather than actual dysmotility 4
• The association between hEDS and gut symptoms may not represent true chronic small intestinal dysmotility, so exercise extreme caution when considering escalating invasiveness of nutrition support, especially in pain-predominant presentations 4
• Avoid parenteral nutrition except in life-threatening malnutrition as a temporary bridge to rehabilitative therapies, due to increased risk of catheter-related bloodstream infections 3

Treatment Errors

• Never prescribe opioids, as they contribute to dysmotility and worsen outcomes 4, 1, 3, 2
• Recognize that diagnostic delay increases likelihood of severe pain and worsens outcomes 7
• Psychological distress is common and requires multidisciplinary approach including clinical psychology and liaison psychiatry 4

Multidisciplinary Coordination

Coordinate care among the following specialists to provide comprehensive management: 3, 2

• Medical genetics for diagnosis confirmation and classification 1, 2
• Physical therapy as central to management 2, 5, 6
• Pain management specialist for chronic pain 2
• Cardiology for POTS and aortic monitoring 1, 2
• Gastroenterology for GI manifestations 1, 2
• Nutrition for dietary interventions 3, 2
• Psychology/psychiatry for CBT and mental health support 2

Additional Considerations for Elderly Patients

• Vitamin C supplementation may improve hypermobility as it is a cofactor for collagen fibril cross-linking 2
• Encourage low-impact weight-bearing exercise for bone health 2
• Monitor for increased fall risk due to joint instability and proprioceptive deficits 8