Hypermobility Spectrum Disorders

Define a hypermobile joint.

A more than normal ROM in a single joint or group of joints

In which population is hypermobility more common in?

Females

What is hypermobility spectrum disorder (HSD)?

• Symptoms/pain associated with joint hypermobility but does NOT meet criteria for a syndrome (like EDS)

• Impacts QOL

Which phenotype of HSD are we most concerned about?

Generalized HSD → hypermobility in 5+ joints

Are HSD and EDS the same?

• NO

• HSD is the umbrella term that EDS falls under

What is Ehlers Danlos Syndrome (EDS)?

• Group of inherited connective tissue disorders

• Alters collagen & ECM of connective tissue for joints, blood vessels, skin, and organ system integrity

Describe the collection of Ehlers Danlos Syndromes (EDS).

A genetic condition with variable presentation

What issues are seen with EDS?

• Joint instability

• Tissue fragility

• Chronic pain

• Progressive myltisystem dysfunction

What is the most common type of EDS?

Hypermobility (hEDS)

What are the s/sx of hEDS?

• Joint hypermobility

• Joint instability

• Chronic pain

• Mild skin hyperextensibility

• Abnormal scarring

What conditions/symptoms can occur with hEDS?

• Fatigue

• Headaches

• Autonomic issues

• Anxiety

• GI & GU complaints

Why is early recognition important for HSD?

• Potential to avoid complications in adulthood

• Can prevent decreased QOL & participation

What is the most common symptom in children with hEDS/HSD?

Chronic pain

Where is pediatric pain from hEDS/HSD reported most?

• LE joints, back, & abdomen

• Back, hip, shoulder = most

Why can patients possibly have increased pain after exercise?

Pain-inhibiting effect of physical activity is altered

What tool is most commonly used to screen for hEDS/HSD?

Beighton scale

What is a positive score on the Beighton scale for children before puberty?

6/9

What is a positive score on the Beighton scale for puberty up to 50?

5/9

What is a positive score on the Beighton scale for adults 50 and older?

4/9

A positive Beighton Scale Score alone indicates which diagnosis?

Joint hypermobility

Can PTs diagnose EDS/HSD?

NO → REFER

What population should NOT be assessed for hEDS/HSD and why?

• Children younger than 5

• They are naturally more hypermobile

• They are not done growing

What assessments can be used to evaluate HSD severity?

• Proprioception testing

• Beighton scale

• Coordination

• 4 Point Kneeling

• Bridging

• Foot Posture Index

Which conditions make up the comorbidity “trifecta”?

• EDS

• POTS

• MCAS

What is the threshold for diagnosis of PTS in children?

A rise of ≥ 30 bpm without change in BP

What is the threshold for diagnosis of PTS in children?

A rise of ≥ 40 bpm without change in BP

What is Mast Cell Activation Syndrome (MCAS)?

• Patient experiences repeated episodes of symptoms of anaphylaxis

• Multiple allergic reactions

What cardiovascular comorbidities may occur with HSD/EDS?

• Mitral valve prolapse

• Aortic root dilation → AAA

• Cardiovascular-related autonomic dysfunction

• Sedentary lifestyle

What is the most prevalent cardiovascular-related autonomic dysfunction in hEDS?

POTS

Why is a sedentary lifestyle common in HSD/EDS?

Pain, fatigue, & instability of joints causes muscle weakness → less activity

What are common pediatric comorbidities to HSD/EDS?

• Coordination difficulties

• Neurodevelopmental disorders

• Speech & language disorders

• Poor writing skills

• ADHD

• Autism

What 2 interventions have the highest level of evidence for treating HSD/EDS?

• Ther Ex

• Motor Function Training

What is important to include when planning interventions for HSD/EDS?

• Graded, low resistance programs

• Activity modifications

• Strategies for joint protection

• Avoiding activities that place excessive stress on joints

What treatment may be useful in improving proprioception and minimizing stress on the body?

Body mechanics

What 2 treatments have been found to improve control of movement and QOL?

• Proprioception

• Strength training

What must you keep in mind when exercising a patient with POTS?

Start in recumbent exercises, LE & core strengthening for venous return

What treatment may provide additional proprioceptive input through enhancing cutaneous sensory input?

• Bracing

  • Compression clothes

  • Taping

  • Orthotics

When should you educate your patient to use assistive devices?

• When there is significant pain

• When performing repetitive activities that could lead to overuse injury

How should MCAS be treated?

Symptomatically

What treatment should be avoided for MCAS?

Steroids