Hypermobility

a.k.a. Heritable disorders

of connective tissue

Chris O’Callaghan

Austin Health

Heidelberg

What is hypermobility?

Ehlers Danlos syndrome(s)

Diagnostic criteria

Hypermobility spectrum disorders

Low blood pressure

The petrol on the fire

Tonight

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Beighton score

≥ 5 = hypermobility

Tissue

elasticity

Hypermobile Ehlers

Danlos syndromePopulation

Ehlers Danlos Syndrome

Edvard Ehlers & Henri-Alexandre Danlos

E. Ehlers and L. Cutis, “Neigung zu Haemorhagien in der Haut, Lockerung mehrerer Artikulationen,” Dermatologische Zeitschrift, vol. 8, pp. 173–174, 1901.

(Tendency to skin haemorrhage and loosening of articulations)

H. A. Danlos, “Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvenile pseudo-diab´etique de MM, Halloepau et Mac´e de L´epinay),” Bulletin de la Soci´et´e Franc¸aise de Dermatologie et de Syphiligraphie, vol. 39, pp. 1252–1256, 1908.

(A case of skin laxity with chronic bruising of the elbows and knees)

Ehlers Danlos syndrome c1969

125 patients

Spontaneous intestinal perforation, GIT haemorrhage

Hernias, diaphragmatic eventration, intestinal diverticulae, rectal

prolapse

Joint hypermobility c2004

Patients: n = 170 females with benign joint hypermobility syndrome

Controls: n = 50 female non-hypermobile hospital staff

GI complaints i.e. “nausea, stomach ache, diarrhoea, constipation”

– BJHS vs control: 37% vs 16%

Prevalence and familial patterns of

gastrointestinal symptoms, joint

hypermobility

and diurnal blood pressure variation in

eating disorders

Min Yin Goh1, James Olver2, Chia Y Huang3, Melinda Millard4, Chris

O’Callaghan1

1Department of Clinical Pharmacology, Austin Health, Heidelberg, Victoria, Australia2Department of Psychiatry, University of Melbourne, Heidelberg, Victoria, Australia

3Eating Disorders Unit, The Melbourne Clinic, Richmond, Victoria, Australia4Victorian Spinal Cord Service, Austin Health, Victoria, Australia

FamilialElasticity: joints (stretch/painful), haemorrhoids, prolapse, diverticular disease, hernias, varicose veins, aneurysmsFatigue: Glandular fever, Chronic fatigue syndrome, post-viral fatigueOrthostatic intolerance: (“low blood pressure”, POTS)Gastro-intestinal: swallowing, bloating, constipation, diarrhoea, MigrainesAtopy: asthma, eczema, hay-fever, allergies/anaphylaxisNocturnal: initiation, fragmented sleep, non-restorative sleep, vivid dreamsGenito-urinary:

Painful/heavy periodsIncontinence/retention of urinePainful intercourse

ENT: tonsils, adenoids, otitis media (middle ear infections)

Performance:Dancer, singer, musician, sports, fine art

FE-FOG-MANGE (P)An acronym for the manfestations of joint hypermobilitiy

The 2017 international classification of the Ehlers–Danlossyndromes: Diagnostic criterial for Hypermobile EDS

Criteria 1: Generalised joint hypermobility

AND

Criteria 2: Two or more of Features A, B or C

– Feature A: Generalized connective tissue disorder

at least 5 signs of 12

– Feature B: Family member with hypermobile EDS

– Feature C: Musculoskeletal complications

at least 1 sign of 3

Feature C: Musculoskeletal complications (at least 1):

Musculoskeletal pain in >2 limbs, recurring daily for at >3 months

Chronic, widespread pain for >3 months

Recurrent joint dislocations or frank joint instability, in the absence of

trauma (a or b)

a. > 3 atraumatic dislocations in the same joint or > 2 atraumatic

dislocations in 2 different joints occurring at different times

b. Medical confirmation of joint instability at > 2 sites not related to

trauma

Feature A: systemic manifestations of a more generalized connective tissue disorder (a total of 5)

Unusually soft or velvety skin

Mild skin hyper-extensibility

Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts

and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or

loss of body fat or weight

Bilateral piezogenic papules

Recurrent or multiple abdominal hernia(s) e.g., umbilical, inguinal, crural

Atrophic scarring involving at least two sites and without the formation of truly papyraceous

and/or hemosideric scars as seen in classical

Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women

without a history of morbid obesity or other known predisposing medical condition

Dental crowding and high or narrow palate

Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign on both sides;

(ii) positive thumb sign on both sides

Arm span-to-height >1.05

Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria

Aortic root dilatation

2017 international classification of the Ehlers–Danlos syndromes

Classical EDS (cEDS)

Classical-like EDS (clEDS)

Cardiac-valvular EDS (cvEDS)

Vascular EDS (vEDS)

Hypermobile EDS (hEDS)

Arthrochalasia EDS (aEDS)

Dermatosparaxis EDS (dEDS)

Kyphoscoliotic EDS (kEDS)

Brittle Cornea Syndrome (BCS)

Spondylodysplastic EDS (spEDS)

Musculocontractural EDS (mcEDS)

Myopathic EDS (mEDS)

Periodontal EDS (pEDS)

Jameela Jamil … a case of EDS

British actress, radio presenter, model, activist.

Star of The Good Place (HBO)

February was a particularly difficult month

Accusations she had Munchausen’s syndrome

Came out as queer … "It was just an outburst"

“I’m really happy that handshaking is kind of

cancelled for ever … The fact you know that a hand

has been on a dick at some point before touching

your hand is deeply unsettling,”

I’m not the authority on anything.”

THEGUARDIAN.COM…

Jameela Jamil … a case of EDS

Guardian.com …

Sexual assault victim

MVA, ‘severely damaging her spine

Mental health/self harm

Surgery for hearing loss

Coeliac disease

Ehlers-Danlos syndrome

Self.com

rare connective tissue disorder

13 EDS subtypes

“tissues, such as arteries and organs of the body

(e.g. the heart and intestine), are not as strong as

they should be and they may rupture or not function

normally.”

Healthline.com

‘Why Sia’s Reveal of Chronic Pain from Ehlers-Danlos Is So

Important’

“Hey, I’m suffering with chronic pain, a neurological disease,

ehlers danlos and I just wanted to say to those of you suffering

from pain, whether physical or emotional, I love you, keep

going,” … Twitter.com

“Treatment is usually with pain medications, risk assessment, and

close monitoring for more severe conditions such as the blood

vessel rupturing”

Tissue

elasticity

Hypermobility

spectrum

disorders

Ehlers Danlos

syndrome – joint

hypermobility typePopulation

Athletes,

singers,

dancers,

musicians,

artists

The 2017 international classification of the Ehlers–Danlos syndromes:

Hypermobility spectrum disorders

Criteria #1 of 2: Hypermobility

Generalized – hypermobile joints in all 4 limbs and your trunk.

Localized – hypermobile in less than 5 joints.

Peripheral – hypermobile in the hands and/or feet only.

Historical – hypermobility present in youth, but has now faded.

The 2017 international classification of the Ehlers–Danlos syndromes:

Hypermobility spectrum disorders

Criteria #2 of 2: Musculo-skeletal manifestations

Trauma:

Micro-trauma, i.e. recurrent or persistent pain, early osteoarthritis.

Macro-trauma, i.e. dislocations, subluxations, soft tissue injuries of

muscles, ligaments, tendons, synovium, and cartilage.

Chronic pain.

Disturbed proprioception i.e. impaired sense of joint position.

Other musculoskeletal traits: flat feet, misaligned bones in the

elbow and big toe, mild-moderate scoliosis, kyphosis (outward

curvature) of the upper spine, lordosis (inward curvature) of the

lower spine

Why is blood pressure inadequate in joint hypermobility, and why does it matter?

Legs Heart Brain

UprightImmobileBack-archPostural change

HeatAfter foodAfter exerciseAfter alcohol

1. Fainting2. Brain dysfunction

1. Vision (blurring, pixilation, tunnel vision, patches/complete2. Cognition

1. Memory2. Concentration3. Word finding

3. Dizziness/faintness4. Thirst/salt craving5. ‘Coat-hanger’ pain

3. Adrenaline 1. Skin: cool / white / wet / goosebumps2. Tremor3. Pupils / Ears4. Palpitations5. Brain: alert/apprehensive/anxious/panic

“Joint hypermobility syndrome is not a trivial

articular problem occurring in healthy individuals; it

is now recognised as a multisystem disorder and a

major source of chronic widespread pain,

dysautonomias and gastrointestinal dysmotility.”

Fikree, Aziz, Grahame, Rheum Dis Clin N Am 39, 2013, 419-30