Hypermobility in perspective DR. PHILIP BULL FRCP CONSULTANT RHEUMATOLOGIST MEDICAL ADVISOR TO THE HYPERMOBILITY SYNDROMES ASSOCIATION
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1 WELCOME!
2 Hypermobility in perspective DR. PHILIP BULL FRCP CONSULTANT RHEUMATOLOGIST MEDICAL ADVISOR TO THE HYPERMOBILITY SYNDROMES ASSOCIATION
3 Outline of the introduction BACKGROUND, Hereditary connective tissue diseases. FOCUS ON the condition formerly known as the JOINT HYPERMOBILITY SYNDROME now called: HYPERMOBILITY SPECTRUM DISORDER RECLASSIFICATION BUILDING THE KENT HYPERMOBILITY NETWORK
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5 Why look for Hypermobility? Increased Injury Risk: Soft tissue injury Poor Proprioception, Muscle Imbalance, Physical Deconditioning Joint subluxation / dislocation. Often requires different approaches to physical treatments Often missed opportunities in cases labelled as Fibromyalgia or Chronic Fatigue Syndrome. - Many patients will reflect on the therapy being too much and too painful when the hypermobility has been missed. - A hypermobile joint that moves in the normal range is a stiff joint
6 HYPERMOBILITY Syndrome/HSD FREQUENTLY: - OVERLOOKED - DISREGARDED - DISCOUNTED EASY TO SPOT IF YOU LOOK FOR IT! EASY TO MISS IF YOU DO NOT SO ASK THE RIGHT QUESTIONS! NB: IMPACT ON WELLBEING WHILST UNDIAGNOSED 6
7 THE 10 year maze
8 JOINT HYPERMOBILITY SYNDROME / EDS type iii WHAT IS IT? 8 DEFINITION:A HERITABLE DISORDER OF CONNECTIVE TISSUE; CAUSES JOINT PAIN, INSTABILITY AND SOFT TISSUE INJURY OFTEN ASSOCIATED WITH OTHER SYMPTOMS. AUTOSOMAL DOMINANT, VARIABLE EXPRESSION. Joint hypermobility plus symptoms =JHS (now reclassified as HSD) No longer described as Benign!
9 9
10 Hereditary Disorders of Connective Tissue COL I, III, V etc FIBRILLIN Marfan Syndrome (Genetic) Ehlers Danlos Syndrome (Genetic) Joint Hypermobility Syndrome (No Gene) EDS Hypermobility type (No Gene) COLLAGEN COL II, XI Stickler Syndrome (Genetic) COL1 Osteogenesis Imperfecta (Genetic) ELASTIN Psuedo Xanthoma & other
11 The Joint Hypermobility Syndrome 1960s to the Present Day MUSCULOSKELETAL PAIN / JOINT INSTABILITY OVERLAP WITH HDCT/SKIN/HABITUS UTERINE/RECTAL PROLAPSE CHRONIC PAIN R Grahame, 2014 SYNDROME ANXIETY/PHOBIAS CVS DYSREGULATION GI DYSMOTILITY ARNOLD CHIARI MAST CELLS Symptoms & Complications in JHS, NOT Diagnosti c Criteria for JHS
12 The New York meeting May 2016
13 American Journal of medical genetics 3/17 Pain Physio Fatigue Autonomics Bowel Anxiety Orthopaedics Neuro Classification LINK WILL BE PROVIDED!
14 New EDS Criteria 2017
15 New Terminology old new Ehlers Danlos syndrome.. Ehlers Danlos syndromes Hypermobility EDS Hypermobile EDS HEDS/VEDS/CEDS heds/veds/ceds JHS Type3,111,4,2,etc hypermobility spectrum disorders numerical descriptors out!
16 EDS A SPECTRUM 16 EDS. spectrum.
17 The Beighton 9-Point Hypermobility Score Right Left 5th MCP 1 1 Thumb 1 1 Elbow 1 1 Knees 1 1 Lumba r Spine 1 9 Beighton PH et al. Ann Rheum Dis
18 Hypermobility Is Found Beyond the Beighton Score 8
19 Top 10 questions: Joint instability? Bruising and stretchmarks? Fatigue? Reflux, nausea, constipation? Fast heart rate/dizziness? Bladder concerns? Worse around menstruation? Anxious/ depressed? Family affected? Other concerns?
20 SOMETIMES you need to look back to get the diagnosis. Have you ever had clicky joints Could you do the splits or crab as a child? Are you/ were you clumsy( proprioception) Have you had a local anaesthetic that didn t work Soft handshake / soft skin Can be REGIONAL therefore overlooked
21 Some Misconceptions About Hypermobility Presence of hypermobility does NOT always mean presence of a hypermobility syndrome, and may not be the cause of the pain Hypermobility is NOT always benign A low Beighton score does NOT mean absence of hypermobility Absence of hypermobility does NOT mean absence of HDCT, There s more to this than the hypermobility
22 Hypermobility and Medical Conditions Hypermobile Asymptomatic / Mild non-impairing symptoms Even advantageous (e.g. gymnastics, sport, dance) Focal Joint Injury / Dislocations Multiple Injury and Other Structural Pathologies Complex Systemic Disorder HDCT
23 Hypermobility and Medical Conditions Hypermobile Asymptomatic / Mild non-impairing symptoms Even advantageous (e.g. gymnastics, sport, dance) Focal Joint Injury / Dislocations CWP, FM & CFS JHS EDS, MF etc Multiple Injury and Other Structural Pathologies Complex Systemic Disorder HDCT CWP Chronic Widespread Pain; FM Fibromyalgia; CFS Chronic Fatigue Syndrome; JHS Joint Hypermobility Syndrome; EDS Ehlers Danlos Syndrome; MFS Marfan Syndrome
24 Hypermobility and Medical Conditions CWP (1,2) 3-4% General Population HM and CWP 0.2% To JHS (3-5) 0.5% EDS, MF etc 1 in 5000 (1) Mulvey et al. Arth Care Res 2013; Aug 65(8): (2) Hakim & Grahame R. Arth Care Res 2014; Mar;66(3):496. (3) Johnson & Falls. Arch Derm Syphilo. 1949;60: (4) Klemp et al. Rheumatol 2002;41: (5) Grahame R, Hakim AJ. Ann Rheum Dis 2006;(5): #487.
25 Other important features AUTONOMIC DYSFUNCTION BOWEL SYMPTOMS(EG IBS) PROPRIOCEPTIVE DIFFICULTIES SOFT TISSUE LAXITY.HERNIAS, VV S ANXIETY/DEPRESSION CHRONIC PAIN/FIBROMYALGIA Nb: This doesn t mean you will get the above! EVERYONE IS DIFFERENT! 25
26 JHS(and(Gastrointes7nal(symptoms(( Hakim A J, Grahame R Rheumatology 2004;43: Rheumatology Vol. 43 No. 9 British Society for Rheumatology 2004; all rights reserved 26
27 Joint Hypermobility Epidemiology Adult population prevalence (generalised & pauciarticular) 10-30% (Beighton et al 1973, Al Rawi et al 1985, Larson et al 1993, Hakim et al 2004, Mulvey etal 2013) Female : Male ratio 3 : 1 Diminishes with age Asian and African > Caucasian racial groups Association with poor proprioception
28 LETS LOOK AT THE SYSTEMIC MANIFESTATIONS
29 AUTONOMIC DYSFUNCTION Palpitations Dizziness Fainting Postural hypotension(pots) Temperature control Sweating Bowels/ bladder 29
30 NINE-POINT BEIGHTON HYPERMOBILITY Autonomic Nervous System SCORE 30 The ability to: Right 1. Left Passively dorsiflex the fifth 1 1 metacarpophalangeal joint to >90o 2. Passively appose the thumb 1 1 to the volar aspect of the forearm 3. Passively hyperextend the elbow 1 1 to >10o 4. Passively hyperextend the knee 1 1 to >10o 5. Actively place hands flat on the floor TOTAL 1 9 Limitations: Small number of joints all or none test Other scores: Contompanis 1979 Barcelona 1992
31 Cardiovascular Dysregulation Orthostatic Intolerance Postural Orthostatic Ta chycardia (POTs) Orthostatic Hypotension Young women Delayed hypotension > 30 bpm rise in pulse Associated with OI Patchy dysautonomia, pooling of blood in peripheral circulation Activation / hypersensitivity of Rapid drop in blood system cardiac sympathetic pressure > 20/10 mmhg Standing intolerance Vaeroy et al 1998, Petzke & Clauw 2000, Raj et al 2000, Rosner et al 2000, Cohen et al 2001, Giske et al 2008, Mathias CJ et al. Nat Rev Neurol. 2011; 8(1):22-34, De Wandele I, et al 2014
32 COMMON SYMPTOMS Fast heart rate (palpitations) Light-headedness, near blackout (pre-syncope) Visual impairment - altered acuity, partial or complete visual loss Cognitive complaints: word-finding, concentration, memory Chest pain Tremulousness Chronic fatigue Exercise intolerance Swelling and/or discolouration (dusky purple/red) in the legs after standing for only relatively short (e.g. 30 mins).
33 COMMON TRIGGERS Medication side effects Dehydration Hot environments After exercise After alcohol or caffeine, food During other illness Stressful situations e.g. blood tests, arguments, exams, painful stimuli, surgery After long periods of rest
34 Treatments for Cardiovascular Autonomic Dysfunction Non Pharmacological Hydration Increase Salt intake Isotonic drinks Avoid Caffeine / Alcohol Pharmacological Control meal size and frequency head up bed tilt Elastic support stocking Exercise & muscle conditioning Mineralocorticoids Fludrocortisone Sympathomimetics that do not raise heart rate Midodrine Beta adrenergic blockers - ideally cardioselective Sympatholytics Clonidine I(f) Channel blocker Ivabradine Cholinesterase inhibitors Pyridostigmine Peptide release inhibitor -
35 Simple advice for POTS Increase fluid intake Increase salt Don t stand up quickly Visit HMSA website
36 GASTROENTEROLOGY
37 Bowel Symptoms in JHS % BJH S C o n tr o ls 10 5 Constipati on Diarrho ea Stoma ch ache JHS n=172 Controls n=54 Naus ea 0 (Hakim &Grahame 2004 Mohammed et al 2010 Farmer et al 2010)
38 Bowel Dysfunction in JHS Mechanical Hiatus hernia / weak sphincter Gastroparesis: Nausea and Vomiting Slow transit: Constipation, Colic, Diarrhoea Pseudo Obstruction (Swallow studies, Manometry, (capsular)endoscopy, Transit studies, colonoscopy) Autonomic Neuropathic dysfunction and pain Allergies / Intolerances / Chronic Inflammation (Breath tests, infection studies, stimulation and exclusion trials, colonoscopy / histology) Zarate N et al Fikree et al 2014, Domínguez-Ortega G et al 2014, Fikree et al 2015
39 GUT(symptoms(in(EDS( 39 Symptoms Oesophagus!Problems swallowing Gastro-oesophageal junction!reflux Stomach! Fullness, nausea, vomiting, bloating, reflux Large bowel! Constipation Rectum! Constipation
40 Cons7pa7on(:(( 40
41 Cons7pa7on:(( 41
42 Effects(of(a(sluggish(gut( 42
43 43
44 Effects(of(a(leaky(gut(( 44
45 Gastroenterology messages 40 to 50% of IBS patients are Hypermobile Possible genesis of eating disorders!
46 Mast cell activation syndrome (MCAD) Mast cells inappropriately release mediators Dermatological..flushing,itching Cardiovascular dizziness,syncope GI...diarrhoea,nausea, vomiting Neuro...brain fog, headaaches, migraine Respiratory...congestion, cough, wheeze Eye...conjuctivitis General...fatigue, food and drug intolerances Feeling cold all the time Anaphylaxis
47 Mast cell activation syndrome TRIGGERS: specific foods Tempeature extremes Airborne triggers..perfume, smoke Stress Hormonal stress, menstrual, pregnancy Fillers in medication Treatment: antihistamines, H1, H2, cromoglycate,montelukast PROBABLY VERY UNDERDIAGNOSED
48 MICROBIOME Residential gut flora..trillions The hidden metabolic organ Association with inflammatory bowel disease, obesity,diabetes,atopy Dysbiosis..c difficile Non diversity of flora..bad? Fatigue syndrome THE DIET MYTH..Tim Spector The future...repoopulation!
49 Potential Treatments for Bowel Dysfunction Non Pharmacological Hydration Salt intake Isotonic fluids Avoid Caffeine / Alcohol Control meal size and frequency Exclusion Diet Pharmacological Anti-spasmodics Ant Acids Anti-emetics Neuropathic analgesics AVOID OPIOIDS EXERCISE/GRAVITY!
50 DERMATOLOGY and WOUND HEALING
51 SKIN MANIFESTATIONS SOFT, SILKY, VELVETY MILD STRETCH SLOWER HEALING RESISTANCE TO L.A. THIN SCARS STRETCH MARKS IN ADOLESCENT GROWTH MILD BRUISING THIN SEMI-TRANSPARENT NODULES SEVERE SCARS SEVERE BRUISING Other Causes of Bruising: Steroids Cushings Coagulopathy Trauma Platelet dysfunction Other Causes of Striae: Obesity Pregnancy Cushings Steroids Skin bleaching 26
52 Stretch reduces with age 27
53 HISTOLOGY collagen 53
54 SURGICAL PREASSESSMENT How much do surgeons need to know about poor wound healing? Avoid certain procedures..eg patellar tracking correction. Latest information available from link
55 Neurological symptoms Small fibre neuropathy on skin Biopsy with EDS ( Neurology,2016..Cazzato et al) Arnold-Chiari..Cranio-Cervical instability Clumsiness
56 Clumsy / Poor Coordination Proprioception & Hypermobility Defective in both position sense and movement awareness at knees and ankles (Mallik et al 1994, Hall et al 1995, Sahin et al 2008, Fatoye et al 2008 and 2009) Defective in hypermobile knee, not shoulder (Rombaut et al 2010, Jeremiah and Alexander 2010) Segmental musculoskeletal reflexes (Quads) impaired
57 Arnold Chiari Malformation 1 in JHS/EDSHT The symptoms include: Headaches, usually at the back of the head these are brought on, or made worse by, exercise, straining, laughing or bending over. Neck pain. Balance problems. Numbness in the arms or legs. Blurred vision and nystagmus. Swallowing difficulty. Hearing loss and tinnitus. Nausea and vomiting.
58 Bladder & Pelvic Floor Mechanical Rectal prolapse Rectocele, Cystocele Vaginal / Bladder prolapse Stress incontinence, Urgency Sexual dysfunction Neuropathic and Inflammatory Bladder instability / irritability Urgency, Frequency (examination, urodynamics, manometry, CT / U-S etc.,) Al-Rawi Symphysis Pubis ZS, Al-Rawi ZT. 1982, NortonDysfunction PA et al. 1995, McIntosh LJ, et al 1996, Bai SW, et al. 2002, Karan A, et al. 2004, Mastoroudes H et al. 2013, Mastoroudes H et al
59 RESIRATORY May present with wheeze which is not bronchospasm
60 Pulmonary Function and Skin Elasticity n = 135; age yrs; general population Peak expiratory flow Z-scores skin extensibility (quartiles) (Englebert et al 2006) 4
61 YES WE CAN HELP! STEP 1..RECOGNISE THE CONDITION EARLY!
62 My approach to the patient Give time and information Specialised physiotherapy Alexander lessons Address anxiety..eg..mindfulness Follow up important...this cant be delivered as a one stop shop!
63 Public and Professional Information available ORG
64 The tools in the Box to help with musculoskeletal pain Specialist physiotherapy Mindfulness Alexander technique
65 Multiple Symptoms in JHS/EDS-HT.. Acute & Chronic Pain Autonomic Disturbance Altered pain perception CVS Bowel Soft tissue vulnerability Altered proprioception CHRONIC Anxiety & Phobia
66 Looking at the whole machine..not just bits
67 The mechanic Physio and the driving instructor the Alexander teacher
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70 Hypermobile Postures 30
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72 PSYCHOLOGY Anxiety and depression can be debilitating
73 Anxiety
74 So what is mindfulness?
75 So what is mindfulness? An exercise in re organising your mind by focussing attention on the present moment, using guided meditation. Pioneered by Professor Jon Kabat Zinn at Massachusetts medical school initially to help with chronic pain. Was also found to have far reaching beneficial effects.
76 So what is mindfulness? In the UK Professor Mark Williams at the Oxford Mindfulness centre. Strong evidence that it helps with recurrent depression and anxiety equally effective as antidepressants in controlling relapse. Now NICE recommended for the above. Also evidence for people living with long term conditions such as vascular disorders, chronic pain and cancer.
77 An opportunity for self management
78 The 8 week mindfulness course 2 hours per week plus daily meditation Looks forward Attention in the moment Awareness Relationality Caring
79 20th October 2015 The mindful nation report released A milestone All party Parliamentary group 130 mp s undertake the 8 week training Four key recommendations
80 Mindfulness nation 4 key recommendations Health. MBCT availability for mental health and chronic conditions Teaching in schools Criminal justice system Workplace occupational health issues such as stress, work related rumination, fatigue and disrupted sleep.
81 Read the mindful nation report!
82 Other aspects of holistic pain management Sleep Minimise medication Eat well Hydration Exercise the body Exercise the mind
83 Medications generally ineffective in HMS... time to rethink the approach to fibromyalgia Avoid narcotics Avoid opioids NSAIDS..short term only Avoid amitryptyline longterm maybe nortryptyline avoid gabapentin ( personal view)
84 Associations with Cardiovascular Dysreugulation, Allergy, Irritable Bowel-like Disorders, Bladder disorders. POTS / Hypotension Fibromyalgia Bowel disturbance HM Bladder dysfunction Mast Cell Activation Disorders Syndromes Chronic Fatigue Syndrome Pain Function and Condition Psycho-social wellbeing
85 D. The 2017 terminology of HSD and heds 85 The most common diagnosis of a hypermobility-related disorder was previously called Joint Hypermobility Syndrome (JHS). The JHS diagnostic criteria covered a wide group of patients, some of whom had signs and symptoms that were the same as the Hypermobile variant of Ehlers-Danlos syndrome (EDSHT). Confusion arose over JHS/EDS co-terminology. The 2017 International Classification on EDS addressed this by giving clarity to the criteria for heds. The term JHS has been dropped. Those individuals with hypermobility-related problems that do not have heds or any other HDCT are now given the diagnosis of Hypermobility Spectrum Disorder (HSD)
86 On Left the person is hypermobile and well with nothing else to find; on the Right the person has heds defined by the new criteria. In the middle we now use the term Hypermobility Spectrum Disorder people with their own sets of problems due to their hypermobility but who do not have heds. The Hypermobility Spectrum Disorder Hypermobile EDS The 2017 Criteria
87 D. The Diagnostic Criteria for heds 87 An individual must fulfill each of the 3 domains. In the second domain they must fulfill at least 2 of the 3 descriptors (A, B and C) by achieving sufficient scores where relevant. Domain 1 - The presence of generalized joint hypermobility (A Beighton Score 6 children, 5 in adults under 50 and 4 over 50, or +ve on the 5-part questionnaire) Domain 2 (A) skin or fascia signs and/or pelvic floor concerns and/or Marfanoid features (having at least 5 of all the features mentioned (B) a family history (C) At least 1 of the following 3 presentations: Musculoskeletal pain in 2 or more limbs recurring daily for at least 3 months, or Widespread pain for 3 months, or Recurrent joint dislocations in the absence of trauma - 3 or more atraumatic dislocations in the same joint, or atraumatic dislocations in 2 different joints occurring at different times, or medical confirmation of joint instability at 2 or more sites not related to trauma Domain 3 - The absence of any other underlying Heritable Disorder of Connective Tissue including other variants of EDS
88 The Diagnostic Criteria for heds Domain 2 A 88 Skin/fascia Unusually soft or velvety skin Mild skin hyperextensibility Unexplained striae such as striae distensae or rubrae Bilateral piezogenic papules of the heel Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosiderotic scars as seen in classical EDS Recurrent or multiple abdominal hernia Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without predisposing medical condition Marfanoid features: Dental crowding and high or narrow palate Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria Arm span-to-height 1.05 AND/OR upper segment/lower segment ratio <0.89 Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides; (iii) hand/height ratio > 11% on both sides; (iv) foot/height ratio > 15% on both sides Aortic root dilatation with Z-score >+2 on echocardiography
89 !
90 THANKYOU
91 BUILDING THE NETWORK MASTERCLASSES HMSA KENT HYPERMOBILITY NETWORK VIDEOS FROM MASTERCLASSES EDUCATION SESSIONS INHOUSE TEACHING..THE ONE HOSPITAL POSTGRAD TALKS..MEDICAL STUDENTS..JUNIOR DOCTORS CONSULTANTS SPECIALISTS CARDIOLOGY, GASTRO SOUTH KENT COASTAL CCG COMISSIONING TEAM
92 YOUR IDEAS
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