How Loose is Too Loose? The Female Athlete and Hypermobility

Transcription

1 How Loose is Too Loose? The Female Athlete and Hypermobility Objectives Understand the signs and symptoms of JH & the implications for the athlete Understand the classification of JH and distinguish among the varying types Describe associated comorbidies Identify appropriate interventions including dosage through land and aquatic programs Safely return an athlete with JH to sport and educate on wellness & lifetime management Hypermobility defined Joint hypermobility:..a condition in which one or more synovial joints move, passively and/or actively beyond the normal limits along physiological axes. Epidemiology Prevalence varies depending upon resource 30% - 55% (Engelbert et al) 10% of US population (Tinkle et al) 5% - 20% of women and 1% of men (Russek et al) 20% - 40% of females/10% - 30% of males (Castori et al 2012) Why the variability? Nomenclature Classification Peripheral joints Single joints Peripheral plus axial Additional symptoms Isolated symptoms Nomenclature Classification 2017 EDS Classification Classical EDS (A) Vascular (A) Arthrochalasia (A) Dermatosparaxis (A) Cardiac-valvular (A) Kyphoscoliotic (B) Hypermobile (unresolved)

2 Classical-like EDS (C) Myopathic (C) Spondylodysplastic (D,F) Musculocontractural (D) Periodontal (E) Brittle Cornea syndrome (F) Grouping by Genetic/Pathogenetic Mechanisms; Disorders of A: collagen 1 structure & collagen processing B: collagen folding & cross-linking C: structure & function of myomatrix; interface between muscle and ECM D: GAG synthesis E: complement pathway F: intracellular processes (underlying process not yet understood) Unresolved 2017 EDS Classification Genetics Continuum of joint hypermobiilty Hypermobile EDS Unlike other forms of EDS, the diagnosis is based upon clinical exam; there is no definitive genetic etiology to test for Diagnosis requires positive response to 3 criteria, each with multiple subcategories See Malfait et al. for specifics Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. American journal of medical genetics Part C, Seminars in medical genetics. 2017;175(1):8-26. Purpose of new criteria To highlight the pleiotropic nature of heds To emphasize the syndrome nature of heds To distinguish is from non-syndrome forms of JH And ensure that these patients get treatment even if they don t meet the strict heds criteria Classification of JH Those w asymptomatic, non-syndrome, isolated JH: Generalized JH (GJH) Peripheral JH (PJH) Localized JH (LGH) Those with symptomatic JH but not satisfying the criteria/diagnosis for a syndrome: Hypermobility Spectrum Disorder (HSD) Those with a well-defined syndrome with JH including heds

3 Let s unpack these Asymptomatic: set these aside for now Symptomatic HSD: all must include 1 or more additional MS manifestations: G-HSD: most patients with GJH P-HSD: JH limited to hands and feet L-HSD: JH at single joints or groups of joints H-HSD: self-reported historical GJH But none are syndromes and don t meet new criteria for heds What makes a (genetic) syndrome? Term is used to name multiple features that share the same underlying cause, rather than a common pathogenesis Plieotropy : patterns of anomalies caused directly by a defective gene affecting different tissues/organs or structures So GJH w/ secondary MS involvement does not rise to a syndrome Confused? Genetic Syndromes with JH as a symptom EDS Marfan Loeys-Dietz Some skeletal dysplasias Some hereditary myopathies Etc. HSDs (non-syndrome) L-HSD P-HSD G-HSD H-HSD MS Manifestations vs Pleiotropy Clinical Classification Summary Localized JH Full blown h-eds heds Criteria: Must meet all 3 Criteria (Malfait 2017) 1. GJH: various tests for this 2. At least two of the three following: Systemic manifestation of generalized CT disorder (5 of 12 criteria) + family history (1+ first degree relatives meeting current criteria) Musculoskeletal complications (1 of 3) Absence of skin fragility + exclusion of other heritable and acquired CT disorders + exclusion of alternative diagnoses Moving on: Comorbidities Many associations with other disorders:

4 Anxiety disorders Orthostatic tachycardia (POTS) Variety of functional gastrointestinal disorders (FGDs) Pelvic and bladder dysfunction Considered JH-related comorbidities NOT pleiotropic factors caused by a genetic mutation (at this point) Comorbidities Gastrointestinal Symptoms Structural features Abdominal hernias: up to 20% Rectal prolapse: 10% of women Ptosis of internal organs (rare) Hiatal hernias Functional features Prevalent in 33% -75% Extends from mouth to anus Dysphagia GI reflux Dyspepsia IBS Chronic constipation Most adults present with multiple Osteoarticular disorders Osteoarthritis Common in JH Result of micro and macrotrauma Osteopenia Low bone mass found more frequently in those with hypermobility (p=0.03) Hypermobility increases risk for low bone mass by 1.8x Psychological Disorders Anxiety Most studies have found a positive link between JH and anxiety, higher in women Up to 73% self-reported Depression Studies have found high rates of depression in those with JH (up to 70% of patients) Schizophrenia, ADHD/ADD, ASD Psychological Disorders POTs Postural Orthostatic Tachycardia syndrome N = 109 patients with autonomic dysfunction

5 Prevalence of EDS in POTS patients was 18%, significantly different from the general population Odds ratio of EDS in POTS vs. non-pots patients is 4.9 Fibromyalgia Chronic widespread pain and fatigue common in JH Often diagnosed as fibromyalgia prior to identifying underlying JH Pain can be inflammatory/nociceptive, neuropathic, headache, pelvic Fatigue is overwhelming and impacts function Neuromusculoskeletal Issues Pain and fatigue Fatigue often most debilitating issue Ranges from mild to severe Chronic widespread pain common Neuropathic common Hyperalgesia even in asymptomatic areas Strength, balance, proprioception Impaired muscle strength in those w/ JH compared with age matched controls Impaired balance and impaired gait 95% of patients had fallen in the past year Quality of Life: Multidimensional disability Psychological distress Fear of movement Pain Fatigue Physical impairment Issues Making the diagnosis Recognizing JH as the underlying issue Patients belittled, face negative attitudes from providers Diagnosis delayed Unnecessary and unsuccessful surgeries and interventions focused at a single joint Poor provider understanding of how to manage Contributors to poor care 38% reported iatrogenic injury; 30% reported feeling at risk of one the exercises they told me to do were the exact exercises that made my shoulder pop out. Patients treated w/ standard care w/o consideration of JH Negative attitudes of providers (dismissive, disbelief)

6 Contributors to high quality care Provider knowledge Multimodal treatment Massage Pool therapy Yoga Pilates Manual therapy Dry needling Multi-disciplinary coordination First step to high quality care Diagnosis and recognition Jill.. Beighton Score Examination Subtitle How to put all the background information together into our PE Remember Medical Diagnosis Many times, YOU are the first person to recognize S/S consistent with hypermobility. heds and the HSD do not have a laboratory test to confirm; they are confirmed with our PE and history. If you suspect your patient has a DX that is confirmed with lab testing (other EDS), be sure to refer! General History Questions Do you have any relatives that are hyperflexible or double jointed? heds criterion If you are comfortable sharing, what is your ethnic background? Greater prevalence in persons of Asian or African descent General History Questions Do you have any gastrointestinal symptoms, or have you ever been diagnosed with conditions such as irritable bowel syndrome, constipation, nausea or diarrhea or GERD? Exists in 33%-75% of persons with hypermobility Clinical ramifications: lack of absorption leads to early fatigue, inability to absorb protein and no energy availability to produce muscle mass, and lack of calcium leads to bone fragility

7 General History Questions Do you have joint pain or a history of arthritis at multiple joints? Present in patients with hypermobility due to micro- and macrotrauma Do you frequently feel lightheaded or dizzy (or faint) when you stand up from a lying position? POTS (Postural orthostatic tachycardia syndrome); OR of EDS in POTS vs. non- POTS patients is 4.9 Clinical ramification: effects rehabilitation program design and perhaps a referral to cardiology and/or LE compression garments recommendation (perhaps patient with undxed EDS) General History Questions Have you ever been diagnosed with Fibromyalgia? May be first diagnosed with FMS Do you frequently feel tired or fatigued? Common complaint is patients with FMS and hypermobility syndromes Do you ever feel anxious or depressed, or have you been diagnosed with having anxiety or depression? Present in patients with hypermobility Other things you might hear Clumsiness or motor delay Memory and concentration problems Unrefreshing sleep Headaches Paresthesias Tachycardia Varicose veins History of PI When did your symptoms start? Symptoms often start in childhood and continue into adulthood Describe your symptoms #1:Pain (during or after activity) #2: Excessive fatigue (locally) Joint swelling (lasting hours to days) Looseness or unstable Aggravated by movement or excessive activity Alleviated with rest/support History of PI

8 MOI: macrotrauna or microtrauma Oftentimes, the macrotrauma is not as high energy as is usual or customary ROS************ See previous Examination: Priority of NMSK exam Examination: Priority of NMSK exam Symptomatic JH HSDs (Generalized, localized, peripheral, historical) They are distinguishable from heds because the phenotypic domains of HSDs are usually limited to the musculoskeletal system. JH who do not have any rare type of EDS and do not meet the criteria for heds in terms of severity/pattern of musculoskeletal involvement and/or due to the absence of the other necessary criteria (we will get to this) Generalized HSD 5 or more joints Simultaneously at the four limbs and axial skeleton + Beighton score (?) AND 1 of the following: Flexible pes planus, valgus deformity of elbows, hindfeet and hallux; mild scoliosis (not congenital), accentuated dorsal kyphosis and lumbar lordosis Beighton score of? 6/9: pre-pubertal children and adolescents 5/9: pubertal men and women up to the age of 50 4/9: those >50 years of age Localized HSD Observed at < 5 joints, Affects a single small or large joint and may be bilateral (e.g., bilateral genu recurvatum) May be inherited, but it may be an acquired trait related to past trauma, joint disease, surgery, or training (e.g., spine hypermobility) AND 1 of the following (related to that joint): Flexible pes planus, valgus deformity of elbows, hindfeet and hallux; mild scoliosis (not congenital), accentuated dorsal kyphosis and lumbar lordosis

9 Peripheral HSD Hands and feet only with absence of large and axial joint involvement AND 1 of the following (related to that joint): Flexible pes planus, valgus deformity of elbows, hindfeet and hallux; mild scoliosis (not congenital), accentuated dorsal kyphosis and lumbar lordosis Historical HSD Self reported GJH (e.g., by the five-point questionnaire) - Beighton score AND 1 of the following (related to that joint): Flexible pes planus, valgus deformity of elbows, hindfeet and hallux; mild scoliosis (not congenital), accentuated dorsal kyphosis and lumbar lordosis Rule out G-HSD, P-HSD, and L-HSD Treatment Barriers Everyone with hypermobility has different symptoms Symptoms fluctuate Reports of problematic symptoms to health professionals were often met with skepticism JH is not a widely understood or recognized condition amongst health professionals PT Treatment Guiding Principles See a PT early, and PTs should not treat the joint in isolation Knowledge for PTs: Patients described negative experiences of PT when referred before a JH DX; once diagnosed and referred to JH trained PTs, treatment was beneficial Flexibility in treatment, (e.g. number of sessions, content, specific techniques, mode of delivery, structure and focus) Patient led RX, while understanding patient expectations Meeting individual goals, to manage rather than cure Other successful strategies

10 Holistic, long term approach Use of multiple modalities, such as complementary medicine and therapy techniques Massage, pool therapy, yoga or Pilates, manual manipulation, acupuncture and dry needling What puts the patient at risk A lack of therapist education on joint hypermobility Following a set protocol without accounting for the patient s hypermobility Generalized HSD: Treatment concepts Start globally / big picture Exercises should foster stability and increase proprioception: CKC Movements should utilize numerous muscles/groups vs. individual muscles Encourage short bouts of exercises (to minimize fatigue) but frequently through out the day to increase endurance Start with short levers Isometrics are ok IF the joint is aligned properly Localized HSD: Treatment concepts Examination of adjacent joints / muscle is crucial Rob Peter to pay Paul Stabilization program for the joint that is hypermobile; determine if adjacent joints need increased mobility to impact the hypermobile joint Localized HSD: Treatment Concepts Examples Lumbar Spine Instability: Core stabilization combined with hip mobilizations/hip mobility program Shoulder Instability: Scapular biomechanics correction combined with thoracic mobilization/mobility Cervical Instability: DCF stabilization exercises combined with MWM and mobility at CTJ and T1-T3 Peripheral HSD: Treatment Concepts Anecdotally: I see in the feet primarily

11 Shoewear is important (translation: needs to wear them) OTC orthotics Assess talocrural joint, and fibular mobility with pronation and supination Intrinsic strengthening sans shoes In Summary Screen / check for HSD (not just Beighton scale) Discuss findings with patient and how will impact your program design Under cut dosing of exercise, teach what to loss of form / substitution means Treat what is sitting in front of you Hypermobile EDS (heds) No laboratory test to confirm, only clinical exam Needs simultaneous presence of the following 3 criteria Criterion 1: Generalized Joint Hypermobility (GJH) Beighton score of? 6/9: pre-pubertal children and adolescents 5/9: pubertal men and women up to the age of 50 4/9: those >50 years of age Criterion 2: Two or More of the Following Features MUST Be Present Has 3 categories! Category A (5 of 12 to be +) Skin Extensibility Pinching and lifting the cutaneous and subcutaneous layers of the skin Forearm: cm Dorsum of the hands: cm Neck: 3 cm Elbow: 3 cm Knees: 3 cm Straie

12 Piezogenic Papules of the Heel Atrophic Scarring Category B: Positive family history with one or more first degree relatives independently meeting the current diagnostic criteria for heds.? Category C: musculoskeletal complications (must have at least one) Musculoskeletal pain in 2+ 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 (a or b) a. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times b. Medical confirmation of joint instability at two or more sites not related to trauma Criterion 3: All the Following MUST Be Met Absence of unusual skin fragility, which should prompt consideration of other types of EDS Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. Exclusion of alternative diagnoses that may also include joint hypermobility Research supporting/utilizing exercise and PT for RX Palmer S, Bailey S, Barker L, et al. The effectiveness of therapeutic exercise for joint hypermobility syndrome: a systematic review. Physiotherapy 100 (2014) articles, ( ) one controlled trial, one comparative trial and two cohort studies. All studies found clinical improvements over time. However there was no convincing evidence that exercise was better than control or that joint-specific and generalised exercise differed in effectiveness. A pilot study: Bathen et al, 2013 N = 12 (1) 18 days in a rehabilitation unit with testing, physical training, group discussions and lectures.

13 (2) Individual home exercises for three months with weekly guidance by local physiotherapist. (3) Readmission four days for retesting and further training advice. Changes in perceived performance of ADLs, increase of muscle strength and endurance and a significant reduction of kinesiophobia. Case Study 15 y.o female swimmer History Referred from primary care Diagnosis lumbar radiculopathy Chief Complaint One week hx of LBP Mechanism: turned over in bed to grab her phone Immediate LBP and could not feel legs She was being seen regularly by a DO for manipulation Three days prior they had done a lot of manipulation Past Medical History B shoulder pain 3 patellar subluxations Idiopathic scoliosis Food allergy Recurrent Nursemaids elbow Recurrent dislocations under age one Family taught to reduce Current Signs and Symptoms Right leg is still tingly into bottom/top of foot and first 3 toes Shooting pain across LB and down R leg with every step; L leg is good Both hips go numb after prolonged sitting Agg/Ease Aggravating: sitting, standing, walking, laying on right side Ease: left sidelying, fetal, with pillow between knees Prior level of function Able to sit in class Able to stand, walk, bend Carry her backpack Requires help Swim competitively Exam: Anterior Markedly hypermobile

14 Genu varus Genu recurvatum Pes planus Exam: Posterior Calcaneal valgus Thoracic and lumbar scoliosis Right rib hump Right sided upslip Apparent short left leg Impression Systemic hypermoblity/eds Acute lumbar disc herniation Poor postural awareness Progressive worsening of scoliotic curve Thoracic muscle weakness Issues Combination of EDS, dynamic scoliosis, acute disc herniation How to treat all of this? Is there an order to it? Approach Started with pain relief and frontal plane stabilization Sidelying isometrics to scapular stabilizers TrA activation with focus on left rib cage expansion Quadriped self correction Extensive education on connective tissues response to prolonged loads (i.e. sitting in class) Disco-seat Progression Seen by SportsMedicine MD who suggested Schroth training for scoliosis Radiculopathy too severe to do this work Continuing PT stabilization: symptoms slightly better; wants to get back into pool Return to swimming, avoiding too much extension Continue discoseat, trying Intelliskin Compression garments Progression Unable to resume swimming; too painful No functional progress; numbness in right toes and leg Intermittent numbness in hips Persistent LBP Manual therapy to R piriformis Correction for R sacral rotation Plank, quadruped stabilization

15 Six days later. Worsening symptoms Increased pain each of last 4 nights Up for several hours Negatively affecting school work Using acupressure to relieve Tried dry needling with some pain decrease and ROM increase immediately after However, no real change and patient refuses a second bout of DN Next step: Pool Pain is worsening; needs pain meds at night to sleep, numbness in R leg Narrow BOS stabilization using arms with gloves Stabilization from bottom up using band and resistive ring All challenging but did not increase LBP/leg pain To continue this program I Stabilization Stabilization activities Adding resistance & trunk movement Further assessment: MRI Mild DDD with central disc protrusion at L4-5 and L5-S1 Possible annular tear at L4-5 No canal or foraminal stenosis Pain increased by Swimming Prolonged walking Sharp, shooting, constant aching Beighton score: 8/9 Referred to Pain Clinic Acute injury difficult to diagnose Radicular symptoms No evidence of nerve compression on MRI Treat R SIJ dysfunction first; SIJ injection planned; continuing PT Continue to treat her postural dysfunction Orthotics: feet, SIJ belt, Intelliskin SIJ can cause lateral thigh numbness if worn too much Progression (7 months later) Core stabilization exercise: Increase time Supine Standing Focus on piriformis strength and mobility Self-release acupressure SIJ injection Had complete relief post procedure Felt much better with R foot numbness gone

16 Will start swimming Progression (9 months later) Started swimming; some pain and numbness after, but able to slowly progress Pain with flip turns to hold on these 75% of usual yardage A month later; still frustrated, pain limits her ability to swim Still needs meds at night to sleep Repeat SIJ injection; this did not help the second time, but had a positive provocation response Progression (14-16 months) Ongoing pain Right L5 dorsal ramus, S1, S2, S3 lateral branch blocks Decreased pain from a 5/10 to a 1/10 Pain gradually increased again Confirmatory blocks again: Positive response Radiofrequency neurotomy Positive response to RF but markedly negative response to the anesthesia PT remains stable through this period Progression (16 months) Better; swimming, starting a track program at school, continues core Some hip symptoms Restart PT Focus on core strength, hamstring flexibility; things are better At 24 months: presents to ED One week increase in LBP Episode of urinary incontinence Restart PT again Currently Considering PRP and Prolotherapy Ongoing PT Patient is HS senior with a college swimming scholarship Working on managing her symptoms Additional cases