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The EDS Spectrum

Home 9 The EDS Spectrum

Dr. Jason Siefferman on Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD)

Speaker: Dr. Jason Siefferman, Physiatrist, Interventional Pain Specialist, Board-Certified in Headache Medicine

Introduction

Hello, good evening. Thank you all for joining us. I’m Dr. Jason Siefferman, a physiatrist with fellowship training in interventional pain and board certification in headache medicine. Today, I’ll provide an overview of Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD)—two complex conditions that affect multiple systems in the body.

Defining Ehlers-Danlos Syndrome

  • Ehlers-Danlos Syndrome (EDS) is not a single condition but a group of connective tissue disorders with multiple subtypes.
  • The most common subtype is hypermobile EDS (hEDS), also known as Type 3 EDS.
  • Unlike classical or vascular EDS, hEDS has no known genetic marker, so genetic testing usually does not confirm the diagnosis.

Other subtypes:

  • Classical EDS: associated with collagen defects; marked by fragile, stretchy skin and poor wound healing.
  • Vascular EDS: associated with life-threatening arterial and organ fragility; increased risk of ruptures in arteries, lungs, spleen, or liver.

Key Symptoms of Hypermobile EDS

  • Joint hypermobility and instability
  • Chronic musculoskeletal pain
  • Skin fragility and delayed healing (more common in classical EDS)
  • Vascular fragility (vascular EDS)
  • Associated conditions:
    • Mast Cell Activation Syndrome (MCAS)
    • Dysautonomia (e.g., POTS)
    • GI disorders such as gastroparesis and SIBO
    • Neuropsychiatric symptoms including anxiety, ADHD, OCD-like traits

Diagnosing Hypermobile EDS vs. HSD

  • Diagnosis relies on history and physical exam.
  • The Beighton score is used to assess hypermobility.
  • Hypermobility Spectrum Disorder (HSD) has nearly identical symptoms to hEDS but does not meet the full diagnostic criteria.
  • Many patients are misdiagnosed with fibromyalgia or told their symptoms are “all in their head” before receiving proper evaluation.

Associated Conditions

  1. Headache & Migraine
    • Up to 30% of hypermobile patients suffer migraines compared to 6% of men and 18% of women in the general population.
  2. Cranio-Cervical Instability (CCI)
    • When ligaments cannot properly stabilize the head-neck junction, symptoms may include headaches, nerve compression, jugular vein obstruction, or CSF flow restriction.
  3. Dysautonomia
    • Autonomic nervous system dysfunction can cause dizziness, palpitations, POTS, and adrenal insufficiency.
  4. GI Disorders
    • Gastroparesis, reflux, constipation, and small intestinal bacterial overgrowth are common.
  5. Musculoskeletal Issues
    • Frequent sprains, subluxations, and dislocations that damage surrounding ligaments, tendons, and labral structures.

Clinical Approach

  1. Identify Primary Conditions
    • Hypermobility, cranio-cervical instability, migraine, PTSD, autoimmune disease, or structural injuries.
  2. Recognize Secondary Conditions
    • Myofascial pain, dystonia, TMJ dysfunction, nerve entrapment, pelvic floor dysfunction.
  3. Map Out Symptom Cascades
    • Many patients have a “snowball effect” of symptoms accumulating over years.

Treatment Categories

  1. Medications
    • Symptom relief and diagnostic guidance (e.g., mast cell stabilizers, autoimmune-targeted therapies).
  2. Physical Modalities
    • Physical therapy, proprioceptive training, strength conditioning, chiropractic (case-specific), acupuncture, heat/cold therapies.
  3. Procedures
    • Diagnostic injections to confirm pain sources.
    • Regenerative medicine:
      • Prolotherapy (dextrose): strengthens ligaments.
      • Platelet-Rich Plasma (PRP): stimulates collagen growth.
  4. Pain Psychology
    • Addresses the neuropsychiatric burden of chronic pain and helps patients with coping strategies and goal setting.

The Role of Physiatry

As a physiatrist specializing in biomechanics, I:

  • Use diagnostic ultrasound to assess joints and connective tissue in real time.
  • Guide bracing strategies to balance support with muscle engagement.
  • Collaborate with a multidisciplinary team (neuropsychologists, physical therapists, social workers, vocational rehab specialists).
  • Perform interventional procedures to stabilize hypermobile joints and improve function.

Closing Remarks

  • EDS and HSD require a personalized, multidisciplinary approach.
  • No single treatment works for everyone. Medicine for hypermobility is iterative—trial, error, and refinement.
  • The ultimate goal: identify and treat the root causes of laxity and instability, reduce pain, and restore quality of life.