Ehlers Danlos Syndrome

Heather Purdin Goodell, PT

Heather Purdin Goodell, M.S., P.T.

• Graduate of Duke University 1995 with BS in BioPsychoSocial Psychology, Health Psych, and Neuropsych

• Honors Thesis on Pain Behaviors in Children• Master’s Degree in Physical Therapy Duke University 1997• Special Initiatives award for “enhancing awareness of

cultural diversity in our program and profession”• Private practice owner with mission of providing holistic

care and large portion of patients having chronic pain• Personal experience with HEDS

Common Orthopedic Problems

• TMJ dysfunction present in > 70%

• Neck pain/tension headaches/unstable segments/herniations

• Shoulder sublux/dislocate/multidirectional instability and tendonitis

• Elbow tendonitis

• Early onset OA in hands and feet

• Rib subluxation repeated at certain levels

• Low Back Pain – unstable segments, disc herniation

• Hip dislocation• Patellofemoral syndrome• Flat feet, “plantar fasciitis”• Migraines

Common Neuromuscular problems

• Poor proprioception (sense of position) leads to increased incidence of injuries, clumsiness

• Pediatrics: Late walker, no crawling• Poor balance – possibly greater issue for geriatrics as

other factors begin affecting balance• Reduced sensation/muscle weakness• Increased peripheral neuropathy • Increased pain sensitivity/reactivity possibly

associated with larger amygdalas and smaller anterior cingulate and parietal lobes

Common Biochemical Problems

• Hyperadrenergia – too much adrenaline may be associated with low blood pressure, possible mechanical cause at adrenals or at receptors or due to different brain make up, psychological response can lead to a vicious feedback loop

• Adrenaline ↔ Panic/overactivity • Chronic exposure to adrenaline makes for “jumpiness”,

go-getter personality, “go ‘til you drop” mentality = poor pacing and cycle of too much then too little activity

• Chronic Fatigue, Adrenal Fatigue, Fibromyalgia

Treatment – BioPsychoSocial Approach

• “The best management program should include drugs, physical therapy, cognitive-behavioral therapy, and adherence to a series of lifestyle recommendations.” Castori 2012

Biological = medicine & mechanics• Medicines to treat neurotransmitter issues:- SSRIs- *SNRIs – seratonin and norepinepherine re-uptake inhibitor and at

higher doses dopamine- Blood pressure meds to increase BP (salt and water intake natural

treatment), for decreased BP (clonidine inhibits sympathetic outflow and causes vasoconstriction) – see the dysautonomia information network/POTS What to do

- Beta blockers have adrenaline buffering effect – low doses- Valium and Ativan for acute episodes and to assist sleep- Other sleep aides – melatonin over the counter 1-5 mg- Naturopathic: Serriphos, Relax Max, adrenal support

Inflammation increases pain sensitivity

Medicine to treat connective tissue issues

• Vitamin C (children 2-4000mg) and E – assist with collagen generation

• Bone/joint support: Calcium Citrate 1000mg + D3 880mg, glucosamine and chondroitin

• Energy – B complex, Cerefolin NAC also helps memory and mental clarity

• Others: vit K, y-linolenic acid, pycnogenol mangesium, zinc, methly sulfonyl methane, silica

• Long term effect of pills on Kidneys, Liver?

Biological: Mechanics = PT

• Discharge goal is to teach neutral joint mechanics at all joints for all activities. – Learn to be your own PT

• Where to start? Is it the loosest or the tightest link that is the biggest problem? Beware of the tight one.

• Start at the biggest complaint & relieve the most pain quickly and if this isn’t the tightest or loosest link then go there next.

Pain leads to inactivity & inactivity leads to tissue failure

• Affects on Bone – after 12 weeks immobilization bone hardness is reduced 55-60%

• Connective tissue – immobilization→less water, altered collagen & glycosaminoglycans → ↑ space between collagen fibres, reduced elasticity, more brittle, ***capsule and ligaments fail at lower loads*** -- Keer and Grahame

• Nerve – neural reflex causes muscle atrophy from joint damage and immobilization

• Muscle – decreased fiber size, altered sarcomere alignment, ↓ mass– Reduced #, size, function of

mitochondria – Reduced oxidative

capacity/increased fatiguability

– Most in 1st 5-7 days immobile – Atrophy also from reflex

inhibition due to pain, fear of pain, injury and inflammation

Key Components to PT Program

• Education about condition, pacing, self treatment, diet (protein and water), rest, sleep, Explain Pain, stress management, ergonomics

• Proprioception, coordination and kinaesthesia• Core stability endurance and strength• Global Muscle strength and endurance• Controlled flexibility• Cardiovascular fitness• Relaxation and breathing

Mechanics of Functional Movements – easy to get quick change in pain

• Sit to stand• Posture in sitting or standing• Sleeping posture, surface (memory foam

helps), use props/supports• Mechanics of specific functions– Reaching and neutral shoulder (stabilize shoulder

blade and shoulder before moving arm)– Engaging muscles before moving (think before you

move)

Bracing and Taping

• Multidirectional instability of the _____

• Hips, Shoulders, SI, Knees, Ribs, Fingers

• Learning to self manage painful areas as they arise

• Brace for the activity – think prevention!

• Foot orthotics

Mechanics of Stretch

• Stretch aligns collagen fibrils and cross fibers that develop when not stretched

• Reduces pain• Caution for Overstretch:

Do 80% of what you think you can

• Initially 3-5 sec to avoid pain response

Mechanics of Strength

• Muscle fibers become disorganized with lack of use and become more painful – this is reversed with strengthening

• Regular strengthening lowers biochemical inflammatory response in muscles and lowers systemic inflammation

• Key is to start light and progress slowly

Recommended Strength Exercise• Symmetry• Neutral Joints!• Spine stability initially with support

to provide feedback about where the body is: i.e. lean against wall/on floor before removing support

• Spine stability in functional movements next

• Light weights – engaging proper muscles is chief concern before ↑ weight

• Pool exercises• Ball exercises• Balance ex• Caution with bands that get tighter

toward end range

Strengthening – how hard to go?• #1 rule is to protect your joints at all times• Stay painfree whenever possible – initially the painfree zone is very

narrow and then expands as you desensitize – PTs can shine here with knowledge of body mechanics/joint protection

• Optimal strength effect: 2-3 sets to fatigue (12-20 reps) 3x/week (American College of Sports Medicine)

• Initially – 1st 2 weeks’ gains are from neuromuscular connection and lighter but more frequent exercise may be OK

• Repeat exercises once recover from last workout or every other day• 80% of what you think you can do (Keer and Graham)• Do 50% of your maximum at first. Rate of Perceived Exertion 0-10

scale: 5/10 initially for 1st week, 6/10 2nd -4th week, with a goal of attaining 7/10

• 2 hour recovery rule: 2 hrs later pain level < or = prior level

Physiology of Cardiovascular Exercise

• Chronic pain leads to fewer mitochondria, slower Kreb Cycle (making use of energy)which improves with chronic exposure to cardiovascular exercise

• Increased circulation to remove waste products, bring oxygen and reduces need for adrenaline to perfuse vital organs and distal regions

• Ideal: daily, outdoors, 10 minutes or greater, RPE < 7/10

• Start cardio/walking after initial core stab training

Cardio effects on mood and pain

• When Your Body Gets the Blues (Brown) – 10 minutes of walking outside in the clouds elevates mood for 1.5 hrs

• compared to chocolate consumption, there is no “low” afterwards

Manual Therapy – soft tissue

• Re-align collagen fibers and release cross fibers through myofascial release

• Reduce guarding in muscles and fascia – Bowen Technique

• Rhythmic oscillations to reduce tone to normal

Manual Therapy - Joints

• Correct alignment with gentle techniques –use the muscles, specific mobilization

• Extreme caution with Chiropractic adjustments to be very specific and not beyond strength of tissues

Neurological PT

• Mobilization of the nervous system through specific exercises to improve nerve circulation

• Exercise classes – Yoga, Thai Chi, Chi Gong, Ai Chi, Aqua aerobics to associate movement with meditation or positive sensation

• Breathing education – diaphragmatic breathing increases tone in postural muscles, can assist with reducing anxiety, adrenaline

• Meditation – guided relaxation technique to reduce tone, reduce pain, reduce fight or flight

Women’s/Men’s Health Issues• Uterine, bladder prolapse, rectal prolapse = minor Dx criteria • Incontinence – pesaries are braces to support bladder/rectum • Rectocele worsens due to constipation and straining, leads to

increase in inflammation in gut and infection of bladder, yeast infections

• Teach proper toileting techniques – squat position to relax pelvic floor, big belly, deep breathing

• Pelvic pain associated with involuntary guarding to gain stability of pelvis, organs

• Chronic inflammation and infection can lead to interstitial cystitis, vulvodynia

• Erectile Dysfunction associated with low blood pressure and vascular insufficiency

Psycho:• Understanding pain reduces

pain perception• Realizing that many health

issues are linked by one common cause reduces worry

• Patient education• Family education• Cognitive Behavioral Therapy

– learn to respond differently and change your neurochemistry

– work on the doing too much/too little cycle

– address fear of movement/fear of permanent damage with exercise

• Pain is Depressing (chemically)

Social:

• PT goals to get out and be active again• PT can be a fun, social outing – socialize!• Exercise classes• Support groups– Fibromyalgia support group

• portlandfibrocfs.com

– Ehlers Danlos Support Group• www.oreds.org• www.ednf.org National Foundation • www.inspire.com International EDS Online Support

Other Providers on the Team• Massage: Bowen technique, Neuro

integrative Therapy, MFR• Reiki, Acupuncture, other

Naturopathic rx • Spiritual and Religious• Psychologist• MD/ND for medication and medical

management, but who is in charge?: Primary care, Pain Doc, Physiatry, Rheumatologist, Geneticist, Orthopedist, Gynecologist, Cardiologist, Opthamologist, Psychiatrist?

• Caution for Quacks- people will spend any amount of money to be rid of pain and waste a lot on unproven practices, providers, and supplements

References• Brown, When Your Body Gets the Blues• Butler, D and Moseley, L, Explain Pain • M. Castori, I. Sperduti, C. Celletti, F. Camerota, and P. Grammatico, “Symptom

and joint mobility progression in the joint hypermobility syndrome (Ehlers-Danlos syndrome, hypermobility type),” Clinical and Experimental Rheumatology, vol. 29, pp. 998–1005, 2011.

• M. Castori, “Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations,” ISNR Dermatology, Volume 2012 (2012), Article ID 751768, 22 pages.

• M. Castori, S. Morlino, C. Celletti et al., “Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach,” American Journal of Medical Genetics A, vol. 158, pp. 2055–2070, 2012.

• A. J. Hakim and R. Grahame, “A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain,” International Journal of Clinical Practice, vol. 57, no. 3, pp. 163–166, 2003.

References Con’t• A. J. Hakim, R. J. Keer, and R. Grahame, Hypermobility, Fibromyalgia and Chronic

Pain, Churchill Livingstone, Elsevier, Edinburgh, UK, 2010.• Keer, Rosemary and Grahame, Rodney Hypermobility Syndrome – Recognition

and Management for Physiotherapists published by Butterworth Heineman, Elsevier Limited 2003

• R. Keer and J. Simmonds, “Joint protection and physical rehabilitation of the adult with hypermobility syndrome,” Current Opinion in Rheumatology, vol. 23, no. 2, pp. 131–136, 2011.

• Knight, Isobel with Hakim, A A Guide to Living with Hypermobility Synrome: Bending without Breaking 2010

• Pocinki, Alan G, MD, PLLC Joint Hypermobility and Joint Hypermobility Syndrome• J. V. Simmonds and R. J. Keer, “Hypermobility and the hypermobility syndrome—

part 2: assessment and management of hypermobility syndrome: illustrated via case studies,” Manual Therapy, vol. 13, no. 2, pp. e1–e11, 2008.

• J. V. Simmonds and R. J. Keer, “Hypermobility and the hypermobility syndrome,” Manual Therapy, vol. 12, no. 4, pp. 298–309, 2007.

References Con’t• www.ednf.org• www.inspire.com• www.oreds.org• Facebook: Oregon Area Ehlers-Danlos Syndrome, Fibromyalgia Support Group Portland• http://prettyill.com

http://medicalzebras.comhttp://hypermobility.org (UK)http://ehlers-danlos.org (UK)http://ehlersdanlosnetwork.orghttp://murraywoodfoundation.orghttp://www.reumatologia-dr-bravo.cl (CL)

• www.dinet.org Dysautonomia information• Mobilisation of the Nervous System – NOI group course• North American Institute or Orthopaedic and Manual Therapy (NAIOMT) courses

Heather Goodell, PT4475 SW Scholls Ferry Rd, Suite 258

Portland, OR 97225Ph: 503-292-5882

www.goodellpt.comheather@goodellpt.com

Questions?EDS Hypermobile Type is a Heterogeneous Syndrome with varying presentations and intensities. Any body system that relies on collagen is suspect.