1. Hypermobility (and a little on inherited collagen disorders)
Anna moverley
Consultant rheumatologist

2. Joint hypermobility
Important cause of widespread and diffuse chronic pain
If able to move beyond normal joint range, ability to overstretch can cause pain to occur
Global approach essential, with physiotherapy input
Joint stabilizing exercises
Core strength
Proprioception training
Overuse injury prevention – managing activities

3. Benign joint hypermobility syndrome
Beighton criteria
Thumb to wrist (2)
Dorsiflexion of little finger >90 (2)
Hyperextend elbows (2)
Hyperextend knees (2)
Hands flat on floor without bending knees (1)
4 plus = hypermobility
Remember joint laxity decreases with age – ask about childhood activities esp. dance and gymnastics

4. How to manage hypermobility
Reassurance
Physiotherapy
Simple analgesia
Consider screening for cardiac and ophthalmological complications if features of concern

5. Collagen disorders
Collagen and fibrillin are major connective tissue proteins with important mechanical functions
There are a number of types of collagen and a number of gene mutations leading to many subtypes of collagen disease
Inherited collagen disorders may be suspected if systemic features are present in addition to hypermobility

6. Osteogenesis imperfecta
‘Brittle bone disease’
Spectrum of conditions from asymptomatic to stillbirth
Abnormalities of type I collagen found in bone, but also ligaments, teeth, sclera and skin
Ligamental laxity, joint hypermobility, easy bruising and poor dentition are common
Osteopenia, deformity and fractures are common as well (clinically and radiographically)

7. Osteogenesis imperfecta
Type
Clinical features
Inheritance
Defect I
Normal bone growth/dentition
Hearing loss in 50%
Blue sclera AD
Decreased production type I procollagen II
Lethal - stillbirths
AD/AR (rare)
Rearrangement collagen gIA/IIA
III
Deformed growth at birth, worsens
Poor dentition/hearing loss common
AD/AR
Mutations alpha 1 alpha 2 collagen chains IV
Often bone deformity and short stature
Poor dentition
No hearing loss
Normal sclerae
Mutations in alpha 2 chains

8. Marfan syndrome Characterised by
Long extremities (span/height ratio > 1.03)
Long fingers and feet (arachnodactyly)
Tall stature (upper segment/lower segment ratio < 0.89)
Pectus deformity of chest wall
High arched palate
Mandibular hypoplasia
Lens dislocation and myopia
Joint laxity

9. Marfan syndrome Autosomal dominant with complete penetrance
Prevalence 1:25,000
Numerous gene mutations, linked to abnormalities of protein fibrillin types I and II
Predisposition to mitral valve prolapse and acute aortic valve rupture – need CT/MR plus echo
Subgroup without vascular abnormalities exists – congenital contractual arachnodactyly

10. Ehlers-Danlos syndrome
Again, a heterogeneous condition, clinical diagnosis
Skin fragility, joint laxity, short stature, spinal deformity, vascular fragility and, rarely, retinal detachment
At least 9 genetic subtypes, with defined biochemical abnormalities detected in at least 5
Inheritance patterns variable (AD, AR, X-linked)

11. Ehlers-Danlos syndrome
Vascular (type IV) EDS patients have characteristic faces ( wide spaced eyes, lobe-less ears)
Prone to vascular rupture - even in the absence of documented aneurysms – sudden death
Watch out also for pregnancy (cervical incompetence, spontaneous abortion, early birth, tissue trauma), post-partum (moving and stretching) and surgery (skin fragility)

12. Systemic features to look out for
Musculoskeletal:
Pain in two or more limbs daily, or widespread pain for >3mths
Recurrent joint dislocations in the absence of trauma; 3 or more at the same site or in 2 different joints at 2 different times; medical diagnosis of >2 unstable joints without trauma
Dermatological:
Abnormal elasticity
Unexplained striae
Atrophic scarring > 1 site or classic tissue paper, haemosiderin

13. Ophthalmological: Mucosal: Cardiac: Lens dislocation Myopia
Dental crowding AND high or narrow palate
Cardiac:
Mitral valve prolapse
Aortic root dilatation
Autonomic symptoms (hypotension, syncope, tachycardia)

14. Connective tissue weaknesses
Recurrent or multiple abdominal hernia
Pelvic floor, rectal or uterine prolapse in men, children or nulliparous women without other predisposing condition
Abnormal body habitus
Arm span to height ratio 1.05 or more and/or upper segment to lower segment ratio < 0.89; arachnodactyly
Family history
1st or 2nd degree relative with inherited collagen disorder

15. When to consider referral to secondary care, and what information to include
Beighton criteria confirmation of hypermobility, plus more than one systemic feature
Other concerns can be managed through advice and guidance requests
Include Beighton score, history of recurrent joint dislocation, and any systemic symptoms of concern related to inherited disorders of connective tissues

16. Sheffield Genetic Diagnostic Service
Genetics service, not a clinical consultation
Hypermobile patients are often aware of this service
Useful to confirm/refute diagnosis in what can be a difficult situation to manage