A Zebra Among Us: Recognition & Management of Hypermobility Spectrum Disorders

HSD CSM 2018 all v8.pptx2/23/18
Content may not be copied without permission of the speakers. 1
PT for Hypermobility Spectrum Disorders
A Zebra Among Us: Recognition & Management of
Hypermobility Spectrum Disorders Combined Sections Meeting 2018
New Orleans, LA, February 21-24, 2018 Leslie N Russek, PT, DPT, PhD, OCS
Clarkson University, Canton-Potsdam Hospital, Potsdam, NY Stephanie Sabo PT, MPT
Cincinna: Children’s Hospital Medical Center, Cincinna:, OH Jane Simmonds DProf, MCSP, MACP, SFHEA
Great Ormond Ins:tute of Child Health, University College London, London, UK Heather Purdin, MS, PT, CMPT
Good Health Physical Therapy & Wellness, Portland, OR
1
Disclosures The speakers have no financial or other conflicts of interest.
PT for Hypermobility Spectrum Disorders 2
Affiliations [email protected] [email protected] [email protected] [email protected]
Learning Objectives At the end of this course, parDcipants will be able to:
1. Describe typical clinical presenta:on of pa:ents with hypermobility spectrum disorder (HSD) through the lifespan, including pediatric, adolescent, and adult pa:ents within the context of the ICF model.
2. Apply the 2017 Interna:onal Classifica:on to iden:fy Hypermobility Spectrum Disorders and hEDS.
3. Propose evidence-based approaches for physical therapy management for individuals with hypermobility spectrum disorders.
4. Recognize common challenges and pi]alls working with these complex pa:ents.
Outline • 25 min: Introduc:on to EDS, hEDS, HSD (L Russek) • 25 min: Pediatric case (Stephanie Sabo, presented by L. Russek)
– Exam, evalua:on, motor delays, motor control issues, bracing • 25 min: Adolescent case (Jane Simmonds)
– Exam, evalua:on, stra:fied management, POTS, fa:gue, GI problems, psychosocial issues
• 25 min: Adult case (Heather Purdin) – Exam, evalua:on, chronic pain, MCAD,
• 20 min: QA (panel)
Many Types of EDS • Hypermobile (III): Loose joints, joint pain. Most common. • Classical (I & II): Velvety, stretchy, fragile skin. Common. • Vascular (IV): Possible arterial/organ rupture. Most serious. • Kyphoscoliosis: Joint laxity, muscle hypotonia,
developmental delay. Severe functional loss over time. • Arthrochalasia (VII): Congenital hip dislocation, lax joints. • Dermatosparaxis (VII): Severe skin fragility & bruising.
• Malfait, 2017
2/23/18
Vascular Ehlers-Danlos Syndrome
7
Many Names of Hypermobility • Generalized joint hypermobility/laxity (GJH)
– Might or might not have pain or symptoms • Joint hypermobility syndrome (JHS) & hypermobility syndrome
(HMS): terms oden used by rheumatologists • Ehlers-Danlos Syndrome – hypermobility type (EDS – HT or type III)
terminology used by gene:cists • Newly proposed terminology hypermobile Ehlers-Danlos Syndrome
(hEDS) and Hypermobility Spectrum Disorder (HSD) • We will refer to it as ‘hypermobility’ or ‘HSD’
Hypermobility Spectrum Disorder
GJH = (asymptomatic) joint hypermobility; EDS = Ehlers-Danlos Syndrome; hEDS = hypermobile EDS Castori, 2017
Localized-HSD Generalized-HSD Peripheral-HSD Historical-HSD
Prevalence of EDS • HSD is the most common systemic inherited connec:ve :ssue
disorder in humans (Tinkle, 2017) – in the UK prevalence of HSD associated with chronic widespread pain
or severely disabling pain (Mulvey, 2013) is almost as high as fibromyalgia (Fayaz, 2016) and 100 :mes higher than rheumatoid arthri:s.(Humphreys, 2013)
• Affects ~10 million people in the U.S. (Tinkle, 2017) – 30x number of THA/yr; 60x number of ACL reconstruc:ons/yr
• HSD in musculoskeletal healthcare: 30-55%
• In Omani women, probably not this high in the US. (Clark, 2011) • 80-90% of all EDS is hEDS (Tinkle, 2017)
Pathophysiology • Autosomal dominant connec:ve :ssue disorder • There is no gene:c marker known for hEDS
– In contrast to most of the other forms of EDS • Heterogeneous pathophysiology
– Tenascin X abnormality? – Type III collagen abnormality? – Exact connec:ve :ssue abnormality is unknown – (Tinkle, 2017; Malfait, 2017)
Physical Therapy for Hypermobility Spectrum Disorder
2/23/18
Common Signs & Symptoms • Musculoskeletal: joint hypermobility, subluxations/dislocations, sprains,
muscle spasm, TMD, flat feet, finger deformities, arthralgia, myalgia, fractures, pain, proprioceptive deficits, kinesiophobia
• Integumentary: stretchy skin, easy bruising, atrophic scarring, poor wound healing, frequent hernias
• Cardiovascular: dysautonomia, postural orthostatic tachycardia syndrome Other: gastritis, IBS, incontinence, developmental delay, poor coordination, anxiety, mast cell activation, organ prolapse
• Disability due to pain, fatigue, anxiety, depression (Castori, 2011; Colombi, 2015; Scheper, 2016; Tinkle, 2017)
Major Comorbidities • Chronic pain: fibromyalgia, myofascial pain, OA, TMD
– Hyperalgesia (Scheper, 2017)
dysfunction • Mast Cell Activation Disorder: systemic inflammation • Gastrointestinal disorders: GERD, IBS, malabsorption
syndrome (Tinkle, 2017)
HSD Through the Life Span 1. Hypermobile phase
– Hypermobile joints – Clumsiness/motor delay – Constipation/diarrhea – Abdominal hernias
2. Pain phase – Chronic musculoskeletal pain – Strains, sprains, dislocations – Unrefreshing sleep – Chronic fatigue – Memory/cognitive problems – Gastric reflux, abdominal pain – Paresthesias – Tachycardia – Incontinence/UTI
3. Stiffness phase – Widespread pain – Fatigue – Tendinosis/tendon rupture – Chronic gastritis – Stiffness
– (Castori, 2011; Tinkle, 2017)
Evolving Diagnostic Criteria • Un:l 2017:
– Beighton Scale (Beighton, 1973) most oden used for GJH • Carter-Wilkinson (Carter, 1964) • Rotés/Hospital del Mar (Bulbena, 1992)
– Villafranche ClassificaDon used mostly by gene:cists for children: EDS-HT (Beighton, 1998)
– Brighton Criteria used mostly by rheumatologists for adults: JHS (Grahame, 1998)
• New criteria for hEDS: “The 2017 international classification of the Ehlers- Danlos syndromes.” (Malfait, 2017)
• No clear guidelines regarding HSD; Must exclude other poten:al diagnoses
2017 hEDS Diagnostic Criteria Must meet all 3 criteria:
1. Generalized joint hypermobility
2. Features of heritable connec:ve :ssue disorder • Must meet ≥ 2 of 3 categories, A-C
3. Absence of exclusion criteria • (Malfait, 2017)
Beighton Score ≥5/9
• 2: Bend 5th finger back >90° • 2: Touch thumb to forearm • 2: Elbow hyperextension >10° • 2: Knee hyperextension >10° • 1: Palms to floor, knees straight
• Prepubescent ≥6/9 • Pubescent-50 years ≥5/9 • Over 50 years ≥4/9
Pts with limited ROM for cause, add 1 point if ≥2/5 on the 5-Item Questionnaire: 1. Can you now (or could you ever) place your hands flat on the floor without
bending your knees? 2. Can you now (or could you ever) bend your thumb to touch your forearm? 3. As a child, did you amuse your friends by contorting your body into strange
shapes or could you do the splits? 4. As a child or teenager, did your shoulder or kneecap dislocate on more than
one occasion? 5. Do you consider yourself “double-jointed”?
(Malfait, 2017; diagram from Juul-Kristensen)
1: Generalized Joint Hypermobility
2/23/18
2: Features of Heritable Connective Tissue Disorder
• Must have ≥ 2 of the following 3 categories: A. Systemic manifesta:ons
• ≥5 of 12 op:ons B. Family history C. Musculoskeletal complica:ons
• ≥1 of 3 op:ons
2A: Systemic Manifestations i. Unusually sod/velvety skin ii. Mild skin hyperextensibility (forearm) iii. Unexplained straiae/stretch marks iv. Bilateral papules of heel v. Recurrent/mul:ple abdominal hernias vi. Atrophic scarring in ≥ 2 sites vii. Pelvic floor, rectal, uterine prolapse viii. Dental crowding or high, narrow palate ix. Arachnodactyly bilateral Steinberg or Walker sign x. Arm span/height ≥ 1.05 xi. Mitral valve prolapse mild or greater xii. Aor:c root dila:on Meets Systemic ManifestaDons if YES to ≥ 5 items
2A: Systemic Manifestations i. Unusually sod or velvety skin ii. Mild skin hyperextensibility (>1.5 cm on volar, non-
dominant forearm) iii. Unexplained straiae/stretch marks in any or
prepubertal w/o significant weight change
2A: Systemic Manifestations iv. Bilateral piezogenic papules of heel * v. Recurrent or mul:ple abdominal hernias (umbilical,
inguinal, crural; not hiatal hernia) *Piezogenic papules are sub- cutaneous fat herniations through the fascia; they may appear as white nodules only with weight bearing Malfait, 2017
vi. Atrophic scarring involving at least 2 sites (not like classical EDS)
Malfait, 2017 Hypermobile EDS, Castori, 2015
Hypermobile EDS Classical EDS 2A: Systemic Manifestations 2A: Systemic Manifestations
vii. Pelvic floor, rectal, and/or uterine prolapse in children, , nulliparous w/o morbid obesity
viii.Dental crowding and high or narrow palate ix. Bilateral arachnodactyly
– Bilateral Steinberg OR bilateral Walker sign
2/23/18
2A: Systemic Manifestations x. Arm span/height* ≥ 1.05 xi. Mitral valve prolapse mild or greater xii. Aor:c root dila:on, z-score >+2
*Arm span is from tip of middle finger to tip of middle finger
2B: Family History • 1st degree rela:ve independently meets diagnos:c criteria for hEDS
2C: Musculoskeletal Complications 1. Pain ≥ 2 limbs, recurring daily for at least 3 months 2. Chronic widespread pain for ≥ 3 months 3. Recurrent joint disloca:ons or frank joint instability in
absence of trauma (a or b) a. 3+ atrauma:c disloca:ons of same joint OR 2+ disloca:ons of 2
different joints at different :mes b. Medical confirma:on of joint instability at 2+ joints not related to
trauma
• If yes to ≥ 1 item (and not due to other connecDve Dssue disorder, e.g.
lupus, RA), then posiDve for musculoskeletal complicaDons
2: Features of Heritable Connective Tissue Disorder
• In summary, to meet the criterion: Features of heritable connecDve Dssue disorder
• Must have ≥ 2 of the following 3 categories:
A. Systemic manifesta:ons B. Family history C. Musculoskeletal complica:ons (not explained by another
connec:ve :ssue disorder)
3: Absence of Exclusion Criteria To meet this Criterion, all 3 of the following must be ABSENT:
1. Unusual skin fragility (should prompt considera:on of other types of EDS)
2. Other heritable or acquired connec:ve :ssue disorder (e.g, lupus or RA)
3. Neuromuscular disorders that may cause joint hypermobility by means of hypotonia or connec:ve :ssue laxity (e.g., Marfan, other EDS, OI, etc.)
Patient Examination • Use a biopsychosocial approach
• Look for contribu:ng factors as well as signs, symptoms, & involved :ssues
2/23/18
International Classification of Functioning Disability and Health
Engelbert , 2017; Pacey, 2014 PhD thesis
Gastrointestinal
Dysautonomia
Fatigue
Psychological
Pain
Urogenital
Where To Start? Focus on patient’s primary activity & participation restrictions Engelbert, 2017
• Start at the biggest complaint & work toward smaller issues • Look for the key structures/problems that are causing the
pa:ent’s deficits
Principles of the Subjective Exam • Thorough, biopsychosocial interview • Quality of life assessment • Psychosocial assessment tools as indicated (e.g., depression, anxiety, etc.)
• Iden:fy habits and lifestyle choices that contribute to primary complaints – E.g., sleep hygiene, postures, ac:vi:es
• What has helped/harmed in the past – Avoid iatrogenic injuries (Bovet, 2012)
Outcome Measures • Bristol Impact of Hypermobility – The only condi:on-specific – 55 ques:ons – ~10 min to complete – Validated – Reliability, MCID not yet determined
– (Palmer, 2017)
2/23/18
What is Different in HSD? • Tissues in HSD are more fragile (Tinkle, 2017) • May be damaged by more subtle stresses or contribu:ng factors
(“the princess and the pea”) – Are slower to heal (Tinkle, 2017)
• Gravity can have a big impact • Abnormal pain processing/hyperalgesia (Chopra, 2017; Scheper, 2017) • Mul:ple comorbidi:es can compound problems
– E.g., Poor coordina:on microtrauma – Fa:gue or pain decondi:oning – POTS: anxiety muscle trigger points – MCAD excessive inflammatory response
Principles of the Physical Exam • Iden:fy :ssues causing symptoms • Iden:fy stressors affec:ng those :ssues
1. Is there an imbalance between lax joints and :ght muscles? 2. Does poor posture, alignment or gravity stress joints/muscles? 3. Are body mechanics stretching or stressing joints/muscles? 4. Is poor propriocep:on or motor control leading to instability? 5. What is causing muscle trigger points?
• POTS test, if appropriate
Interventions • PaDent educaDon !!! • Exercise (appropriate) • Pain management, focusing on self-care • Assis:ve and ortho:c devices? • Manual therapy?
(Engelbert, 2017; Clinical Guidelines; Chopra, 2017)
Patient Education Educate and empower the paDent/family
• Pain educa:on & self-management • Body mechanics/ergonomics
• Ortho:cs, braces, & splints if/when needed • Appropriate exercise/ac:vity • Sleep hygiene & fa:gue management • POTS self-management • Psychological & social wellness, relaxa:on strategies • Diet and fluid management • Other issues: GI dysfunc:on, MCAD, incon:nence, etc. Refer to other professionals as appropriate (Engelbert, 2017; Chopra, 2017)
Exercise Prescription • Propriocep:on, stabiliza:on, motor control & coordina:on
• Strengthening • Appropriate stretching, stabilizing as needed • Cardiovascular condi:oning
– “Graded Exercise Therapy” • (POTS-specific exercise) (Engelbert, 2017; Palmer, 2014)
Pain Management (in Clinic) • Physiological quie:ng • Biofeedback • TENS (trial for home device) • Manual therapy • Dry needling (if legal in your state) • Shi< to pa=ent self-management
– Avoid extensive use of modali=es in the clinic (Chopra, 2017; Engelbert, 2017)
2/23/18
Medications • Li|le defini:ve research evidence for medica:ons • NSAIDs for true inflamma:on
– NSAIDs may slow :ssue healing, aggravate GI symptoms • Tricyclics, an:-seizure, SNRI meds for neuropathic pain • Topical analgesics and an:-inflammatory medica:ons • Acetaminophen • Cau:ons:
– Opiates for short term use only – Muscle relaxers may aggravate instability
Chopra, 2017 Tinkle, 2017
Barriers To Treatment • Nega:ve past experiences with PT (Bovet, 2016) • Iatrogenic injuries (Bovet, 2016) • Barriers to doing exercise: (Simmonds, 2017)
–Fear –Pain –Fa:gue
Applying Evidence-Based Practice
• Although more research is available now, many ques:ons about op:mal treatment remain unanswered
• We therefore rely on the principles of evidence- based prac:ce
Review • Hypermobility-related complaints are common
– Hypermobility affects most body systems • The 2017 diagnos:c criteria for hEDS are restric:ve
– Consider Hypermobility Spectrum Disorders • PT examina:on should be biopsychosocial (ICF model)
– Account for :ssue fragility – Look for contribu:ng factors
• PT management should address contribu:ng factors PT for Hypermobility Spectrum Disorders 46
Case Examples • The remainder of this session will be through case examples – Pediatric case: Stephanie Sabo, presented by L. Russek
• Addresses assessment, motor delays, motor control issues, bracing – Adolescent case: Jane Simmonds
• Addresses assessment, stra:fied management, POTS, fa:gue, GI problems, psychosocial issues
– Adult case: Heather Purdin • Addresses assessment, chronic pain, MCAD
Managing Pediatric Patients with HSD
Case and slides provided by Stephanie Sabo, PT, MPT
2/23/18
Common Presentation in Children
• Difficulty with prolonged walking or standing • Leg pain worse in evening or at night and with/ader ac:vity • Leg pain symptoms relieved by rubbing or heat • History of “growing pains” • Difficulty si~ng in chair at school, figi:ng • Trips, falls, being labeled “clumsy” (Bernie, 2011; Adib, 2005) • Gross motor delays (Tirosh 1991, Davidovitch 1994, Bernie 2011) • Coordina:on difficul:es (Kirby 2007)
Developmental Condition vs. Hypermobility in Young Children?
• Standardized motor competency tests are not adequate – Do not capture the full impact of joint hypermobility on motor func:on and quality of life
– Quality of movement and compensa:ons should be the focus of the assessment
– Children can oden achieve individual motor items, but not efficiently or repe::vely
– (Remvig, 2011) PT for Hypermobility Spectrum Disorders 50
Prevalence
• 34-35% in school age children • (Arroyo, 1988; Remvig, 2011; Junge, 2013)
• NO gender difference found at 10 y/o
• (Remvig, 2011)
• Post pubertal gender differences • (Quatman, 2008)
Additional Hx: Prior Therapies • It is important to ask about whether the child has had prior therapy and
whether is was perceived as helpful – Some:mes prior therapy reported to be of li|le benefit and worsened symptoms – Ask if hypermobility being targeted in prior therapies; if hypermobility was not
recognized, less likely that therapy was successful • Authors suggest the following poten:al reasons for previously failed
therapies: – Techniques being too aggressive – Dura:on to short – Frequency to high – Failing to appreciate full scope of interven:ons required
(Keer, 2003; Hakim 2003)
Referral Sources • Pediatrics • Rheumatology • Gene:cs • Developmental Pediatrics • Orthopedics • Pain Management
Referral Sources • The EDS/hypermobility popula:on doesn’t fit any specialty area
perfectly • Joint hypermobility and/or its impact on func:on may be iden:fied
during treatment of another condi:on, so it is helpful to screen • Children:
– May or may not come with this diagnosis on the referral – May have seen many physicians or services mul:ple :mes looking for
answers • Pa:ent and family oden express frustra:ons with delay in diagnosis
or lack of explana:on for symptoms.
2/23/18
• Mother with hEDS • Over 2-hour drive from therapy • Parents separated • Limited involvement of biological father
IMPAIRMENTS PARTICIPATION
• Pain in ankles & knees, 7/10-10/10 – Worse with ac:vity & at night
• Headaches • Poor posture • Poor balance • Abnormal gait • Joint hypermobility • Muscle :ghtness: HS, heel cords • Poor motor control & motor skills
• Difficulty walking > 20 minutes • Difficulty si~ng in chair at school
• Trouble at school • Trouble with social func:on, playing with friends
Tommy, age 4
I want to play just like all the
other kids
Tommy: Initial Presentation • 4 year old male referred to PT by Pediatric Rheumatologist
– Onset of symptoms ~1 year ago, with increased complaints in the last 6 months
– Mother with behavior and a|en:on concerns: “doesn’t ever sit s:ll”
– Sent to Rheumatology by primary care physician – 6 months later seen by Gene:cs (per Rheumatology Referral)
• Mother with hypermobility/EDS
Tommy: Initial Presentation • Pain in ankles and knees 2-3 x/week
– 7/10 on Numeric Ra:ng Scale (NRS) – increases with physical ac:vity – increases in evening/night
• Up to 10/10 on NRS; mother has taken him to emergency department for pain
• Bilateral hip and knee x rays - normal • Uses rubbing and medica:on for relief (e.g., over the counter
Tylenol or Motrin) • Pa:ent also has complaints of headaches
Insert subject
Tommy: Findings • Posture:
• Gait: – Decreased knee flexion, over prona:on of rearfoot-midfoot, audible foot slap,
ER at feet • ROM:
– Hip ER 85o, Hip IR 70o, Knee Extension +8o, Ankle Dorsiflexion 30o, Ankle inversion 60o
• Flexibility: – Hamstrings -40o; heelcords 20o
Measuring Flexibility • Assess muscle flexibility
– Differen:ate muscle flexibility and joint mobility
• Isolate muscle length vs. joint laxity – Reinforce need to strengthen…

A Zebra Among Us: Recognition & Management of Hypermobility Spectrum Disorders

Documents

joint hypermobility

connective tissue disorder

joint laxity

hypermobility

spectrum disorder

physical therapy