EDS ECHO for Allied Health Professionals

North AmericaSession 1: Jan 23, 2020

Facilitator: Leslie RussekEDS Administrative Support: Angela Ballard and Stacey Simmonds

Agenda

• 8:00 – Welcome and introductions• Name, geographical location, practice content area• Proposed session schedule

• 8:20 – Overview of patient examination• Biopsychosocial approach, ICF, principles of stratified management

• 8:40 – Case 1 presentation and discussion• 9:00 – Case 2 presentation and discussion• If no 2nd case, discuss special examination approaches for HSD

• 9:20 – Summary and plan for next session

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Introductions

• Please introduce yourself in the Chat section of Zoom• Name, title(s)• Practice content area (e.g., PT, OT, ST, etc.)• Geographical location• Optional: comfort with HSD/EDS (e.g., are you new to this

population, or have you been working with them for years)

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Proposed Session Schedule

1. Intro, biopsychosocial, ICF, diagnosis, stratified mgmt.2. Lumbar spine, hip, LE biomechanics, (central sensitization?)3. Lower quadrant: knee, ankle, and foot4. Women’s health, lumbopelvic dysfunction, urogenital5. Comorbidities: POTS, GI dysfunction, fatigue, (MCAS?)6. Neck, TMJ, Chiari, headaches, cognitive issues, speech7. Shoulder complex and neurodynamics, neck8. Elbow, wrist, hand

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Overview of Patient Examination

• Biopsychosocial approach• International Classification of Function (ICF) approach• Diagnosis of HSD/EDS• Identification of co-morbidities

• Approach to patient examination• Principles of stratified management

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Biopsychosocial Approach• PSCEBSM approach to interview

• Wijma AJ, van Wilgen CP, Meeus M, Nijs J. Clinical biopsychosocial physiotherapy assessment of patients with chronic pain: The first step in pain neuroscience education. Physiother Theory Pract. 2016;32(5):368-384.

• Pain: type of pain (nociceptive, neuropathic, sensitization)• Somatic and medical: comorbidities, physical changes, function, exercise• Cognitive: perception of health, expectations, thought processes…• Emotional: anxiety, anger, fear, depression, post-traumatic stress…• Behavioral: adaptations to pain/issues (healthy, avoidance, persistence)...• Social: relationships, social support, attitudes of healthcare providers…• Motivation: readiness to change, factors affecting self-prognosis…

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ICF Model

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ICF Terminology

• Body structures - Anatomical parts of the body such as organs, limbs and their components. • Body functions - The physiological functions of body systems (including

psychological functions). • Impairments - Problems in body function and structure such as significant

deviation or loss.

• Activity - The execution of a task or action by an individual. • Activity limitations - Difficulties an individual may have in executing activities.

• Participation - Involvement in a life situation. • Participation restrictions - Problems an individual may experience in

involvement in life situations. THE ICF: AN OVERVIEW. https://www.cdc.gov/nchs/data/icd/icfoverview_finalforwho10sept.pdf

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ICF Terminology

• Contextual Factors• These are either barriers to or facilitators of the person's

functioning.• Environmental factors - The physical, social and attitudinal

environment in which people live and conduct their lives. Also medications, assistive technology, insurance, etc. (‘things that can be taken away’)• Personal factors – age, gender, attitudes, fear, motivation, etc.

(‘things that cannot be taken away’ though some can change)THE ICF: AN OVERVIEW. https://www.cdc.gov/nchs/data/icd/icfoverview_finalforwho10sept.pdf

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Examination

• Biopsychosocial history• Thorough systems review• Chart comparing Sx for

HSD, POTS, MCAS, FMS• Functional assessment

• Chart from: Russek LN. Is it really fibromyalgia? Recognizing mast cell activation, orthostatic tachycardia, and hypermobility. OrthopaedicPractice. 2018;30(3):187-193.

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Examination - Diagnosis

• Beighton Scale, but also consider other joints• HSD/hEDS diagnosis,

if necessary

• Flow char t from Russek LN, Stott P, Simmonds J. Recognizing and Effectively Managing Hypermobility-Related Conditions. Phys Ther. 2019;99(9):1189-1200.

Assess Beighton score for

Generalized joint hypermobility

Clinical history

(including family history)

Physical exam

(including hEDS testing)

Consider other forms of EDS:

• Vascular: vascular or organ

involvement

• Classical: significant skin

fragility

•

Refer for

genetic testing

Patient presents with

musculoskeletal pain, peripheral or

central (pain) sensitization, fatigue,

sleep disturbance, developmental

delay, headaches, gastrointestinal

or urogenital complaints, anxiety

Clinical diagnosis of hEDS or HSD

Consider exclusion conditions:

autoimmune rheumatologic conditions,

heritable or acquired connective tissue

disorders (e.g., lupus, RA, etc.) and other

diagnoses such as Marfan, Loeys-Dietz,

osteogenesis imperfecta, etc.

Test for postural orthostatic

tachychardia syndrome

Assess for mast cell

activation syndrome

Start with patient

education and

lifestyle changes

Pain

Urogenital

Headaches & TMD Fatigue & POTS

Integumentary

Anxiety & depression Developmental delay

GI issues/Diet

Cardiovascular

If 1 point below threshold, use

Five-Item Questionnaire

Immune/MCAS Issues

Identify factors contributing to symptoms

Physical Therapy

Needs surgical Rx

Refer

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CRITERION 1 – Generalized Joint HypermobilityOne of the following selected:

¨ ≥6 pre-pubertal children and adolescents ¨ ≥5 pubertal men and woman to age 50 Beighton Score: /9 ¨ ≥4 men and women over the age of 50

If Beighton Score is one point below age- and sex-specific cut off, two or more of the following must also be selected to meet criterion: ¨ Can you now (or could you ever) place your hands flat on the floor without bending your knees? ¨ Can you now (or could you ever) bend your thumb to touch your forearm? ¨ As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits? ¨ As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? ¨ Do you consider yourself “double jointed”?

CRITERION 2 – Two or more of the following features (A, B, or C) must be presentFeature A (five must be present)

¨ Unusually soft or velvety skin ¨ Mild skin hyperextensibility ¨ Unexplained striae distensae or rubae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or pre-pubertal women

without a history of significant gain or loss of body fat or weight ¨ Bilateral piezogenic papules of the heel ¨ Recurrent or multiple abdominal hernia(s) ¨ Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS ¨ Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known

predisposing medical condition ¨ Dental crowding and high or narrow palate ¨ Arachnodactyly, as defined in one or more of the following:

(i) positive wrist sign (Walker sign) on both sides, (ii) positive thumb sign (Steinberg sign) on both sides ¨ Arm span-to-height ratio ≥1.05 ¨ Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria ¨ Aortic root dilatation with Z-score >+2

Feature A total: /12

Feature B ¨ Positive family history; one or more first-degree relatives independently meeting the current criteria for hEDS

Feature C (must have at least one) ¨ Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months ¨ Chronic, widespread pain for ≥3 months ¨ Recurrent joint dislocations or frank joint instability, in the absence of trauma

CRITERION 3 - All of the following prerequisites MUST be met1. Absence of unusual skin fragility, which should prompt consideration of other types of EDS

2. Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired CTD (e.g. Lupus, Rheumatoid Arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted toward a diagnosis of hEDS in this situation.

3. Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g. Bethlem myopathy), other hereditary disorders of the connective tissue (e.g. other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g. osteogenesis imperfecta). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.

Diagnosis:

Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS)This diagnostic checklist is for doctors across

all disciplines to be able to diagnose EDS

Patient name:

Distributed by

The clinical diagnosis of hypermobile EDS needs the simultaneous presence of all criteria, 1 and 2 and 3.

DOB: DOV: Evaluator:

v9

hEDS and HSD Criteria

• hEDS diagnostic criteria posted at: https://www.ehlers-danlos.com/heds-diagnostic-checklist/• HSD is diagnosed if pt meets

generalized hypermobility criterion, and meets some of the other criteria, but not enough for hEDS

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• Identify causative factors• OT: include functional

limitations and cognitive function• ST: speech impediments

and swallowing• Psych: cognitive issues

& mood disorders• Other?

• Flow chart from Russek LN, Stott P, Simmonds J. Recognizing and Effectively Managing Hypermobility-Related Conditions. Phys Ther. 2019;99(9):1189-1200.

Assess Beighton score for

Generalized joint hypermobility

Clinical history

(including family history)

Physical exam

(including hEDS testing)

Consider other forms of EDS:

• Vascular: vascular or organ

involvement

• Classical: significant skin

fragility

•

Refer for

genetic testing

Patient presents with

musculoskeletal pain, peripheral or

central (pain) sensitization, fatigue,

sleep disturbance, developmental

delay, headaches, gastrointestinal

or urogenital complaints, anxiety

Clinical diagnosis of hEDS or HSD

Consider exclusion conditions:

autoimmune rheumatologic conditions,

heritable or acquired connective tissue

disorders (e.g., lupus, RA, etc.) and other

diagnoses such as Marfan, Loeys-Dietz,

osteogenesis imperfecta, etc.

Test for postural orthostatic

tachychardia syndrome

Assess for mast cell

activation syndrome

Start with patient

education and

lifestyle changes

Pain

Urogenital

Headaches & TMD Fatigue & POTS

Integumentary

Anxiety & depression Developmental delay

GI issues/Diet

Cardiovascular

If 1 point below threshold, use

Five-Item Questionnaire

Immune/MCAS Issues

Identify factors contributing to symptoms

Physical Therapy

Needs surgical Rx

Refer

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Examination – Causative Factors

Example of Finding Causes

• Headaches• Pain from trigger points (TrP) in global muscles• Global muscle TrP from cervical instability• Cervical instability from weak deep neck flexors, poor

proprioception, poor motor control, poor posture

• Just treating the painful TrP addresses only a symptom, which is the body’s strategy for coping with instability. Treatment that fails to address the underlying causes of symptoms will be ineffective or counterproductive.

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STRATIFIED MANAGEMENT

SIMPLE/ EARLYAcute, intermittent, mild issues,

often involving only one or two systems

SIMPLE/ EARLYStandard interventions, modified for HSD.Screen for risk factors and comorbidities;

educate about prevention.

INTERMEDIATERecurrent episodes, series of episodes involving multiple issues/systems, deconditioning, some

central/peripheral sensitization.

INTERMEDIATEStandard interventions may have temporary

effect, no effect or exacerbate.Modified / adapted approach to HSD.

Emphasize functional restoration & self-care.

COMPLEX LONG TERMChronic, longstanding, severe, unremitting

pain with profound deconditioning, comorbidities, and disability

COMPLEX/ LONG TERMMulti disciplinary management program using

biopsychosocial approach. (Bathen 2014) Emphasize functional restoration & self-care.

NA-AHP EDS ECHO:1 15Stratified management model modified from Jane Simmonds

References

• Bathen T, Hangmann AB, Hoff M, Andersen LO, Rand-Hendriksen S. Multidisciplinary treatment of disability in Ehlers-Danlos Syndrome hypermobility type/Hypermobility Syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. Am J Med Genet A. 2013;161A(12):3005-3011.

• Center for Disease Control, The ICF: An Overview. Available at: https://www.cdc.gov/nchs/data/icd/icfoverview_finalforwho10sept.pdf. Downloaded 1/15/20.

• Chart from: Russek LN. Is it really fibromyalgia? Recognizing mast cell activation, orthostatic tachycardia, and hypermobility. Orthopaedic Practice. 2018;30(3):187-193.

• Russek LN, Stott P, Simmonds J. Recognizing and Effectively Managing Hypermobility-Related Conditions. Phys Ther. 2019;99(9):1189-1200.

• Wijma AJ, van Wilgen CP, Meeus M, Nijs J. Clinical biopsychosocial physiotherapy assessment of patients with chronic pain: The first step in pain neuroscience education. Physiother Theory Pract. 2016;32(5):368-384.

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1st Case Report Presentation

Case Number: (to be completed by EDS ECHO Staff e.g. 001/1A or 001/1B etc.)

Case Presenter Name: Leslie Russek

Case Presenter Role: Physical Therapist

Patient’s Age: 36 Patient’s Gender: MaleOccupation: optometrist

Known Diagnoses - All

• EDS

• Chronic fatigue

• Irritable bowel syndrome (IBS)

• Allergies: food sensitivities, environmental allergies, chemical & drug sensitivity

• Temporomandibular joint (TMJ) problems requiring multiple surgeries, TMJ joint replacement

• Anxiety, depression

Nature of Current Concern - History

• Widespread pain: mostly hips, neck, shoulders, thumbs, headaches

• Hips feel like they “slip out”• Severe, unremitting fatigue• Inability to exercise due to fatigue and flares

• Voice fatigue, ”lump in throat,” trouble swallowing• GI irritability: mixed diarrhea, constipation, bloating• Limited hand function at work and playing piano• Anxiety, depression

Biopsychosocial Aspects• Distressed because he had to leave Army position 2 years

ago due to health issues. Starting to cope with this, so is less depressed now than in past 2 years.

• Works as optician. He is able to do job, but pain in hands, fatigue/hoarseness talking, and overall fatigue are distressing.

• Supportive wife, but he feels that he does not hold up his share of child care and household responsibilities.

• Anxious about flares of pain, fatigue and GI issues. Feels his body is unreliable.

• Depressed about impact of health issues.

Current Concern - Investigations and Findings

• Pain: • Swayback posture

• Instability & poor motor control at hips, neck, shoulders, thumb

MCP/CMC.

• Hypermobile cervical spine, hypomobile thoracic spine.

• Tight thigh muscles (hip flexors, rectus, HS)• Decreased neck proprioception (joint position error) and motor

control (Stabilizer™)

• (+) test for hip labrum tear L, uncertain R

• Trigger points in neck, forearms, thumbs.

• Clenches teeth

• Fatigue: (-) POTS Stand Test (takes propranolol),

acrocyanosis, deconditioningPicture of acrocyanosis from: ABOU-DIAB, J., MOUBAYED, D., TADDEO, D., JAMOULLE, O., STHENEUR, C.. Acrocyanosis Presentation in Postural Orthostatic Tachycardia Syndrome. International Journal of Clinical Pediatrics, North America, 7, apr.2018. Available at: <https://theijcp.org/index.php/ijcp/article/view/293/245>. Date accessed: 15 Jan. 2020.

Non-Standard Examination Procedures

• Joint Position Error (JPE) for proprioception and motor control, using head-mounted laser.• JPE target and instructions at

http://www.skillworks.biz/Resources/Documents/JPE%20Target%20and%20Instructions.pdf

• Deep neck flexor motor control and substitution patterns using pressure biofeedback device.

Current Concern - Investigations and Findings

• “Lump in throat” and trouble swallowing: aggravated slightly by transverse ligament test (C1-C2 glide) and SCM TrP palpation.

• ? GI irritability: likely due to MCAS, POTS, HSD & central sensitization

• ? Anxiety: likely due to instability, POTS

• ? Depression: likely due to effects of illness & fatigue

Current Treatments - All• HEP emphasizing motor control, proprioception, stabilization, posture;

stretching tight muscles (muscle energy in clinic).• Proprioception and motor control with Stabilizer™ in clinic

• Self-care training re: • Posture, body mechanics, ergonomics, joint protection• Trigger point self-management• Physiological quieting: relaxation breathing, meditation• POTS self-care (www.POTSUK.com brochure)• Mast cell activation trigger avoidance, general diet info (sections from

https://tmsforacure.org/special-edition-for-health-care-professionals/)

• Discussed alternative medications for anxiety/POTS• Graded Exercise Therapy adapted for POTS• https://www.researchgate.net/publication/256293990_Graded_Exercise_Therapy_A_self-

help_guide_for_those_with_chronic_fatigue_syndromemyalgic_encephalomyelitis

• Consider functional thumb splint, especially for piano

Treatments Tried but Poor Efficacy

• Thoracic spine manipulation – no cavitation, no benefit.• Have only seen him once since evaluation, so don’t yet

know efficacy for most of the interventions.

Other Specific Comments about the Case

• Patient lives 1.5 hrs from the clinic, evaluated in winter when travel is particularly difficult.

• Treatment focused on patient education, self-management, and potential follow-up with a local PT.

• For single visit following evaluation, hip subluxation and pain was decreased, as were headaches, jaw and neck pain.

Questions for Discussion.1. Ideas about his voice fatigue/hoarseness and lump in

throat, trouble swallowing?2. Options for thumb MCP and CMC hypermobility that are

functional, allowing fine motor control?3. Link between anxiety and POTS or HSD?4. Should we mobilize thoracic spine hypomobility?5. Best ways to partner with local health providers when

patients travel for consultation?6. Ways to communicate with MD/psych about possibility

that anxiety is due to POTS?

Session 1 Summary• How to access the private Facebook group for this ECHO• You can post additional questions and comments about today’s topic

and cases

• How to access resources, such as journal articles, etc.

• How to access transcripts and slides (48 hr delay)

• Next session topic: Lumbar spine, hip, LE biomechanics• Reminder of process to submit cases

• There will be optional readings posted in advance

• Reminder to provide feedback on today’s session

THANK YOU!NA-AHP EDS ECHO:1 28