This document discusses joint hypermobility and chronic pain. It provides an overview of the history and epidemiology of joint hypermobility syndrome. It discusses the relationship between hypermobility and fibromyalgia as well as how hypermobility can affect the cardiovascular, gastrointestinal and proprioception systems. The document outlines treatment approaches including medications, pain management, cognitive behavioral therapy and physiotherapy. It also reviews regional impacts on areas like the cervical spine, shoulders, hips and feet.

1. Joint Hypermobility
Chronic Pain :
The Journey begins long before …….
Dr Kaushik Sanyal
Consultant Rheumatologist

2. Objective:
1. History and epidemiology
2. Joint Hypermobility syndrome
3. Pain
4. Hypermobility and Fibromyalgia syndrome
5. Hypermobility – CVS /GI /Proprioception
6. Treatment – Drugs /Pain management and CBT/Physiotherapy and OT
7. Regional – Cervical spine /TMJ
Upper limb : Shoulder / hand
Lower limb : Hip / Knee /Foot
8. Changes in pregnancy
2

3. 1890- Emily Dickenson ( Bright’s disease)
‘ Pain is a intimate companion ,it crushes deeply
and silently ,familiar yet unwelcome ‘
1960- Bendy Joints ..
1997 – Couser - With diagnostic tools ,there is trend and relying more on the
‘test result ‘ than the focus on the patient themselves
2005 – Silver – Fifth vital sign recognition after temperature , pulse,
respiration ,blood pressure .
3

4. 1976 – JHS coined …….
Kirk et al
1981- JHS is Heritable disease of connective tissue disease ……
Grahame et al 1981 /1999
2009 – BJHS – HMS – EDS Type III ……..
Not able to distinguish from each other Tinkle et al 2009
4

5. Patient perspective :
• On asking many patients , not able to trace a specific event ….
• Normal behaviour can trigger injury ….
• If body is ill and patient cannot trust ,then communication with the outside
world is broken ….
5

6. Ability to control pain leads to :
• Greater self efficacy
• Better compliance to self managed exercise programme
• Pacing of activities
6

7. Joint Hypermobility Syndrome (JHS)
Heritable Disorder of Connective Tissue ( HDCT )
EDS Marfan
(MFS)
OI Stickler Syndrome
Overlap between above exists
JHS and EDS III are the same Grahame 1999
Marfan recognised in EDS / SS
To exclude MFS – FBN1 gene
7

8. Mickey Mouse Model Sanyal 2017
EDSMarfan
JHS
! EDS III
Overlap
FMS/ CPS
OI
Stickler
Syndrome
8

9. Minor (8)
1.Beighton (any)
2.Arthalgia in 3 J
3.Dislocation of Joint
4. Soft tissue lesion ( epicondylitis)
5.Marfanoid – Span > Height //
Arcahnodactyly
6.Straie / abdominal scar
7.Drooping eyelids
8.Varicose veins /Rectal prolapse
Major (2)
Beighton >4/9
Arthalgia > 3M in 4 J +
JHS :
2M or 1M +2m or 4m
9

10. Classification of EDS ( Villefranche 1997)
Classic I II ** SKIN ** / Joint AD Type V
procollagen
COL 5A1
COL 5A2
Hypermobility III **JOINT**/ Skin
AD Tenascin TNX-B
Vascular IV
AV fistula
Pneumothorax
Sudden Death
AD Type III
Procollagen
COL 3A1
Kyphoscoliosis VI
Muscular
Hypotonia
AR
VII A / B
Congenital
dislocation Hip
AD
VII C
Skin AD
10

11. 11

12. Antonio Bernard Marfan 1858 – 1942
12

13. Ghent 1996 Criteria of Marfan Syndrome - FBN1 gene
5 Major
1. Skeletal 4 +/7 or 2+ 1 / 1 +2
Pectus Excava/Pectus cari
Marfanoid arm >height/Scoliosis >20
deg/Pes planus /Protusio acetabuli
/Positive wrist sign
2.CVS 1/ all
Dilatation /Dissection of aorta
3.Ocular 2/ all
Ectopia Lentis / …..
4.Dura 1/ all
Lumbosacrla dural ectasia
5.Genetic 1/all
5 Minor
1. High arch palate
2. Joint hypermobility
3. MVP
2. Myopia
2. Skin – Striae /hernia
13

14. 2010 Revised Ghent rules :
-Ve family history :
1. Aortic root dilatation + Ectopia lentis
2. Aortic root dilatation + FBN1
3. Aortic root dilatation + system score > 7
4. Ectopia Lentis + FBN1 with known aortic root dilatation
+ve family history :
1. Ectopia lentis + Family History of Marfan
2. Systemic Score > 7 and + Family History of Marfan
3. Aortic root dilatation > 2 in 20 years and > 3 in 30 years old
14

15. 15

16. Osteogenesis Imperfecta
I Mild Blue Sclera + Bone fragility AD COL1A1
II Lethal Beaded Ribs + Bone fragility AD COL1A1
COL1A2
III Severe Hearing Loss in young adults+
Bone fragility
AR COL1A1
COL1A2
IV to VIII
16

17. 17

18. Stickler Syndrome :
Stickler Syndrome
Opthalmology Cranio facial Audiologic Joint
Cataract
Myopia
Midfacial Hypoplenia
Depressed nasal bridge
Anteverted nares
Sensoneural or
conductive
deafness
Early OA
Precocious
18

19. 19

20. Spectrum :
1. Pain
2. Hypermobility – F> M / Asian –African > Caucasian
3. Dislocation ( CDH ) / Subluxation
4. Skin – Papyrus scar / Skin elasticity / Striae / Easily bruising
20

21. Collagen
( from Fibroblast )
Elastin
Strength Skin elasticity
21

22. 5.Striae :
• Abdomen /Lower back /Extensor elbow
• /Across chest /Inner thigh
6.Easy Bruising :
• Spontaneous ecchymosis
• Skin
• Knee
• ( mimic Non Accidental Injury …)
7. Poor wound healing :
• Differential Diagnosis will be
• Age/High steroid/PCT /Vit C deficiency
• Epidermolysis Bullosa
22

23. 8.Low bone mineral density ( Nijs et al 2000)
Poor dentition –dentinogenesis Imperfecta (often with OI)
9. Cardiovascular / Vascular
Dilatation of :
• Aorta > 4.5 cm or sudden change > 0.5 cm
• Ascending Aorta
• Renal Artery
• Splenic Artery
Treatment :
• Beta Blocker
• ACE
MVP – 60 % in Marfan syndrome
23

24. 10. Autonomic disturbances :
• Fainting /palpitation/chest tightness/shortness of breath
Rowe et al , Gazit et al
11.Visceral disease :
• Uterine prolapse
• Rectal prolapse
• Hiatus hernia
• Abdominal wall herniation
• Achalasia of small bowel
12.Pulmonary disease :
• Pneumothorax 5 %
• Intercostal muscle weakness
• Interstitial lung tissue weakness
24

25. 13. Eyes
Retinal detachment
Scarring/Visual loss
Ectopia Lentis/Glaucoma
Myopia
14.Osteoarthritis
Articular dysfunction
Premature Osteoarthritis ( Bridges et al 1992)
** Premature OA of hip and knee – Stickler Syndrome **
25

26. Genetic variation :
OI COL1A1 COL1A2 Sykes 1986
EDS COL5A1 COL5A2 Lichtenstein 1973
EDS Vascular COL3A1
Stickler Syndrome Collagen II XI Francamano 1988
Marfan Syndrome Fibrillin -1
encodes FBN1
15q21
Lee et al 1991
26

27. Joint Hypermobility Syndrome
Performing artist acts as a positive
selection factor in their successful
recruitment McCormack et al 2004
2 scale :
Beighton 9 point scale (Beighton 1973)
Roter-Querol Scale (Bulbena 1992)
27

28. Spectrum in children:
1. Motor delay in 1/3 – bottom shuffling /abnormal gait (Englebest et al 2005)
2.Flat /Pronated feet
3.Squarity of patella
4.Tibial torsion
5.Femoral anteversion
6.Hyperlordosis
Dyspraxia ( poor Coordination)
Motor delay dimisnishes with improvement of age (Davidovitch et al 1994)
28

29. Growing pain :
1823 French Physician - Marcel Du Champ
Explanation by Peterson 1826
• Bilateral Intermittent
• Non-articular pain
• Lower limb
• Late afternoon frequency
• Normal physical Examination
• Normal Lab test
29

30. Joint Hypermobility Skin involvement
Marfan Habitus
Weakness of supporting structure
Gorlin sign : Absence of lingular
frenulum
( De Felice et al 2001)
Adult JHS
30

31. Other features are :
• Vulnerability to injury –tendonitis /tenosynovitis /over use injury
• Anxiety / pain perception
• Lack of efficacy of local anesthetics ( Halam 2000)
• Chronic fatigue ( more in adolscent girls)
• Nerve entrapment – CTS /TTS
• Orthostatic headache
• Pelvic Floor problem (Rawi 1982)
• Anecdotally in old age – more agile leads to less Alzheimer (Qui et al 2009)
31

32. Pain and subtypes :
Hyperalgesia Noxious stimuli
Allodynia Non-noxious stimuli
Nociceptive Stimulated by –mechanical /Thermal /Chemical
Neuropathic Damaged of CNS and PNS
Somatic Skin /bone /Joints
Visceral Intestinal Organ
Acute Pain < 3 months
Chronic Pain > 3 months
32

33. Classification of nerve Fibre
A –alpha Motor fibres to motor neurons
A-beta Cutaneous touch
A-gamma Motor fibres to muscle spindle
A-delta Temperature / Pain afferent
B
C
33

34. Mechanism of Pain:
1. Gate control Theory
2. Peripheral sensitization
3. Central sensitization
4. Wind-up
5. Autonomic and endocrine influences on pain – GH /Melatonin /Cortisol
6. Pain Memory – Cortical reorganisation
34

35. Anxiety Disorder (ICD-10 and DSM IV )
• 28 % in general population
• Becomes abnormal when duration
and intensity disproportionate
• F > M
• Early childhood
( school children – Anxiety (18.1%) > Mood (9.5%) >Substance disorder (3.8%)
• Association JHS and Anxiety disorder Bulbera 1983
35

36. Screening Questionnaire :
• HADS - Hospital Anxiety and Depression Score Zigmond 1983
• PHQ – Patient Health Questionnaire Spitzer 1999
• SF-36 – Psychometric Properties McHorney 1993
36

37. Chronic MSK pain :
CWP CRP
Chronic widespread pain Chronic Regional Pain
> 3 M > 3 M
Eg : FMS ( Wolfe 1990)
EEG – Alpha delta
(Without NREM sleep )
Eg : JHS Eg: JHS
37

38. CAD - Cardiovascular Autonomic Dysfunction
Causes in CFS /FMS/JHS
Vascular deconditioning – Low baroreceptor sensitivity/ high symp.activity
Orthostatic Hypotension
Drop of BP 20 /10
3- 30 min
Anemia,Heat,Drugs,Alch
Orthostatic Intolerance
Symptomatic standing
Disappearance in lying
down
Defect in RAS system
Postural Orthostatic
Tachycardia Syndrome
> 30 rise in pulse +OI
> 120 /min within 10
min of head tilt
Hypersensitivity to
Sympathetic system
38

39. POTS
1869 Beard’s
20 – 50
F > M
Vasovagal Syncope
1993 POTS ( Low 1993) 3 types :
Neuropathic Hyper adrenergic Deconditioning
Venous pooling of blood Hyperadrenergic
NA > High
Bed Rest
39

40. Head Tilt Test – Normally
High Heart Rate 10 – 15 minute and
N Systolic Pressure
Elevated 10 mg Diastolic Pressure
40

41. Chronic Fatigue Syndrome 1994 Fukuda
Primary Criteria :
Chronic fatigue
1. New
2. With normal exertion
3. Not relieved in rest
Secondary Criteria :
4+
1. Memory
2. Sore Throat
3. Tender cervical and axillary nodes
4. Muscle pain
5. Joint pain
6. Headache
7. Post exertion malaise
8. Unrefreshing sleep
41

42. Cardiovascular Autonomic dysfunction Treatment
• Increase fluid volume
• Increase venous return to heart
• Increase fluid uptake 2- 2.5 L /day
• Salt replacement ( Increase
plasma volume
• Intermittent lower limb stocking
Non-Pharmacological
• Increase blood volume –
Fludrocortisone 0.1 mg /24 hours ,
also can use EPO
• Midodrine ( alpha agonist )
• Selective beta blocker – Bisoprolol
/ Metoprolol
Pharmacological
42

43. Bowel dysfunction – JHS FMS CFS
FGID - Functional GI disorder
Common in :
• Female
• Early /Middle age
• Chronic epigastric pain
• Headache
• CFS
• Headache
FMS --------------have----------------IBS 70 % ( Triadofilopokas 1991)
IBS --------------have----------------FMS 28 – 65 % (Kurland 2006)
43

44. Proprioception
Hypermobile children poor coordination 36 % ( Adib 2015)
Treatment :
• Joint stabilisation programme
• Avoid end of range joint position
• Aerobic exercise
• Improve core stability
• Encourage self management + empowerment
44

45. JHS Pharmacotherapy :
Paracetamol ( t1/2 -2 hr) and Codeine ( t ½ - 2 hr )
Codeine , Cocodamol ,Dihydrocodeine (t1/2 to 3 hr )
Meptazinol
Tramadol
Buprenorphine patch ( Butrans)
Durogesic patch ( Fentanyl )
Steroids
Antidepressant
TCA
• Amityptiline
34 % improve
RCT Carette et al
Goldenberg
Others
• Dosulepin (Caruso 1987)
• Venlafaxine (Dwight 1998)
• Cyclobenazine 30 % improve
• SSRI 18 % improve Celikes & Cogan 2000
45

46. Antiepileptic Topical Muscle relaxant Newer
Gabapentine
(Huckle 2004)
Pregablin
(Lauria-Horner
2003)
Transcutaneous
delivery
( Bird 2000 )
Capsaicin
( Schmader 2002)
Meprobamate
(Bailey 2002)
Benzodiazepine
(Merritt 1981)
Clonzepam
Tizanidine
(Russell 2002)
Sodium Oxybutate
( narcolepsy + cataplexy)
(lapierre 1990)
Gabapentin /Pregablin
(Allodynia)
SNRI
Duloxetine (Arnold 2005)
Milnacipran (Mease 2008)
Dopamine Agonist
Ropinirole /Pramipexole
(Lin 1998)
Estrogen GIVES PROTECTIVE EFFECT / **AVOID** PG only containing pills
Cannabinoids 46

47. PMP ( Pain Management Programme) and CBT
Cognitive Behavioural Intervention ( Moorey 2002 )
Cognitive Behavioural Model ( Beck 1976 / NICE 2007 )
Thought Emotion
Pain Behaviour
47

48. PACING
Involve doing small amount of regular activity guided by time rather than pain
SLEEP
Sleep issue common in patient with JHS (Hakim 2004)
48

49. JHS and physiotherapy
Onset in childhood and adolescence in girls age 13 – 19
With 75 % of hypermobile develop symptom at the age of 15 .
• Supportive tight garments have improved proprioceptive feedback
(Simmonds & Keer 2007)
• Restoration of normal range of movement even it is hypermobile ( Keer et
al 2003 )
• Education ,reassurance advice and problem solving ( Rose 1985)
• Improve general fitness ( Simmonds 2007)
49

50. Self Report pain assessment tool :
Happy face
Oxford Scale – Muscle strength
Stamina – 6 minute walk test ( Nixon 1996)
50

51. Pregnancy and Pelvis :
Uterus 30 – 100 gm changes to 1 kg
800 % rise in collagen content (Morrione 1962)
Hypermobility – less evidence of correlation with
Osteradiol / PG / Relaxin
Laxity of ACL related with estradiol in III trimester (Charlton 2001)
Severity of pelvic pain related to relaxin (Maclennon 1991)
Other complication : Cervical Incompetence / Premature Rupture of membrane
Low back pain
+
Pelvic pain
SIJ laxity
Asymmetric laxity common
PBS
Dysfunction
51

52. EDS III (Volkov 2007)
82 % - liver born
18 % - 1 degree / 2 degree trimester miscarriage
2/3 term pregnancy
75 % - vaginal delivery
25 % - cesarian section
Intrapartum Hge – 10 %
Post partum Hge – 5 %
52

53. Thanks for listening ………
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