What is the initial evaluation and management approach for a pediatric patient suspected of having Hypermobile Ehlers-Danlos Syndrome (hEDS) or a related Hypermobility Syndrome (HERMS)?

Initial Evaluation and Management of Pediatric Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HERMS)

A comprehensive multidisciplinary approach is essential for the initial evaluation and management of pediatric patients with suspected hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorders (HERMS), focusing on early identification, proper diagnosis, and targeted interventions to improve long-term morbidity, mortality, and quality of life.

Diagnostic Evaluation

Initial Assessment

1. Detailed Clinical History

   • Family history of joint hypermobility, dislocations, or early-onset arthritis
   • History of joint pain, recurrent dislocations, or subluxations
   • Fatigue and decreased stamina
   • Gastrointestinal symptoms (nausea, abdominal pain, constipation, diarrhea)
   • Autonomic symptoms (dizziness, tachycardia, orthostatic intolerance)
   • Skin manifestations (hyperextensibility, easy bruising, poor wound healing)

2. Physical Examination

   • Beighton score assessment for joint hypermobility (score ≥6 for prepubertal children and adolescents, ≥5 for pubertal men and women)
   • Skin examination for hyperextensibility, fragility, and scarring
   • Musculoskeletal assessment for joint stability and alignment
   • Neurological examination for proprioception and coordination
   • Cardiovascular assessment including orthostatic vital signs

3. Diagnostic Testing

   • Consider genetic testing to exclude other forms of EDS if clinical suspicion is high 1
   • Chromosomal microarray as first-line genetic testing, with consideration of whole exome sequencing if microarray is negative 1
   • Targeted genetic testing if a specific syndrome is suspected 1
   • Note: hEDS does not currently have a known genetic marker for definitive diagnosis 2

Differential Diagnosis

• Other forms of Ehlers-Danlos syndrome
• Marfan syndrome
• Loeys-Dietz syndrome
• Beals syndrome
• Other connective tissue disorders

Management Approach

Multidisciplinary Team Coordination

• Developmental pediatrician or pediatric rheumatologist as the primary coordinator
• Physical therapy for joint stabilization and proprioceptive training
• Occupational therapy for activities of daily living and adaptive strategies
• Pain management specialist for chronic pain issues
• Cardiology evaluation if significant cardiovascular symptoms or family history
• Gastroenterology for management of GI manifestations
• Psychology/psychiatry for management of anxiety and psychological impact

Physical Therapy Interventions

Physical therapy plays a central role in treatment 3, 4:

• Therapeutic exercise focusing on:
  • Joint stabilization exercises
  • Proprioceptive training
  • Core strengthening
  • Gradual conditioning program to prevent deconditioning
• Motor function training to improve coordination and balance
• Adaptive equipment recommendations as needed
• Patient education on joint protection strategies

Pain Management

• Non-pharmacological approaches:

  • Physical therapy
  • Heat/cold therapy
  • Proper body mechanics
  • Pacing activities

• Pharmacological options:

  • Acetaminophen as first-line for pain
  • NSAIDs for inflammatory pain with caution regarding GI effects
  • Avoid opioids for chronic pain management 5
  • Consider neuromodulators (tricyclic antidepressants, gabapentin) for neuropathic pain 5

Management of Associated Conditions

1. Gastrointestinal Symptoms 5

   • For nausea/vomiting: antiemetics (ondansetron) and prokinetics
   • For constipation: osmotic laxatives, fiber supplements
   • For diarrhea: loperamide, dietary modifications
   • For abdominal pain: antispasmodics, neuromodulators

2. Autonomic Dysfunction/POTS 5

   • Increased fluid and salt intake
   • Compression garments
   • Consider beta-blockers (propranolol) or ivabradine if symptoms are severe
   • Gradual, supervised exercise program

3. Fatigue Management 6

   • Rule out common causes (anemia, hypothyroidism, sleep disorders)
   • Energy conservation techniques
   • Graded exercise program
   • Address sleep disturbances

Patient and Family Education

• Education about the condition, expected course, and self-management strategies 2
• Joint protection techniques
• Activity modification without excessive restriction
• Recognition of red flag symptoms requiring urgent attention
• Connection to support groups and resources

Follow-up and Monitoring

• Regular reassessment at 12-24 months after initial evaluation, 3-5 years of age, and 11-12 years of age 1
• Monitoring for development of complications
• Adjustment of treatment plan based on changing needs
• Transition planning for adolescents moving to adult care

Special Considerations

School Accommodations

• Educational plan (IEP or 504 plan) addressing:
  • Physical education modifications
  • Extra time between classes
  • Use of elevator if needed
  • Accommodations for handwriting difficulties
  • Rest periods as needed

Prevention of Complications

• Avoid high-impact and contact sports
• Proper joint protection during physical activities
• Early intervention for acute injuries
• Monitoring for scoliosis and other skeletal issues

Red Flags Requiring Urgent Evaluation

• Severe, acute pain
• New neurological symptoms
• Signs of vascular complications
• Significant decline in function

Conclusion

Early identification and appropriate management of pediatric hEDS/HERMS can significantly improve quality of life and prevent long-term complications. A coordinated multidisciplinary approach focusing on physical therapy, pain management, and treatment of associated conditions is essential for optimal outcomes.