Joint Hypermobility Syndrome

I mentioned on our recent Spring courses how I never used to know about hypermobility syndrome, despite many years as a GP, until we covered it on Hot Topics a couple of years ago and now I diagnose it regularly. We’ve had lots of emails from people wanting to know what we covered, so here it is with associated links. You will definitely pick up cases and, as ever, just knowing what the matter is with you is incredibly helpful – your patients will be very grateful! Let us know your experiences.

 Simon

JOINT HYPERMOBILITY SYNDROME

 Awareness amongst patients is rising around joint hypermobility syndrome (JHS) and it was very usefully reviewed in two papers in the BMJ.

 What is JHS?

 Not a boy band, but a heritable disorder of connective tissue leading to symptomatic joint hypermobility which predisposes to arthralgia, joint instability and soft tissue injury. The symptomatic word is crucial – many people have simple hypermobile joints that cause no problems. They make great dancers and gymnasts!

 It can be a multi-system disorder and non-articular complications include:

• Autonomic dysfunction (e.g. postural hypotension, urinary problems)
• Intestinal dysmotility (IBS is common)
• Laxity in other tissues causing skin problems, hernias or prolapses
• Obstetric complications, including premature rupture of membranes, precipitate delivery and perineal injury

Symptoms are often mild or minimal, but up to a quarter may develop a chronic pain syndrome. It is hereditary, and JHS is indistinguishable from the hypermobility type of Ehlers Danlos syndrome.

 Awareness of the condition is low, as hypermobility is often erroneously considered a variant of normality rather than an inherited connective tissue disorder. The diagnosis is commonly missed as patients tend to present with common, non-inflammatory musculoskeletal pains.

How common is JHS?

Joint hypermobility is very common, occurring in 10-20% of Western populations and higher in Indian, Chinese and Middle Eastern groups. However many of these are hypermobile without symptoms, JHS is diagnosed if the patient is hypermobile and symptomatic.

 

How is it diagnosed?

 Joint hypermobility is defined by the Beighton score.

1.	Can you put your hands flat on the floor with your knees straight?		1
		LEFT	RIGHT
2.	Can you bend your elbow backwards?	1	1
3.	Can you bend your knee backwards?	1	1
4.	Can you bend your thumb back on to the front of your forearm?	1	1
5.	Can you bend your little finger up at right angles to the back of your hand?	1	1
	TOTAL SCORE (maximum = 9, ≥ 4 is suggestive)

 

However, JHS is a symptomatic syndrome. It is an entirely clinical diagnosis, and can be diagnosed on the basis of the Brighton criteria.

Brighton Criteria for JHS JHS diagnosed if: ·         2 major criteria, OR ·         1 major and 2 minor, OR ·         4 minor criteria   Major criteria: ·         Beighton score of ≥ 4 ·         Arthralgia for > 3 months in ≥ 4 joints   Minor criteria ·         Beighton score of 1-3 ·         Arthralgia in 1-3 joints, or back pain, or spondylosis or spondylolisthesis ·         Joint dislocation, more than once ·         ≥ 3 soft tissue lesions e.g. epicondylitis, bursitis, tenosynovitis ·         Marfanoid habitus: Tall, slim, arachnodactyly ·         Skin: striae, hyper-extensibility, thin ·         Eyes: drooping eyelids, myopia ·         Varicose veins, hernias, uterine or rectal prolapse

But, to make the diagnosis we need to ‘think outside the box’.

 Common clues suggesting the diagnosis of JHS include:

• Late walking, poor ball-catching and hand-writing skills
• Recurrent ankle sprains and joint dislocations
• Non inflammatory joint and spinal pain. Chronic pain, unresponsive to analgesics
• Laxity in other tissues e.g. easy bruising, hernias, varicose veins, prolapse
• Functional gastrointestinal disorder e.g. ‘sluggish bowel’ with bloating
• Autonomic dysfunction e.g. orthostatic hypotension, postural tachycardia syndrome

 Management: ‘The key players are the GP and a suitably trained physiotherapist’.  We are expert at the holistic management of chronic, multisystem conditions such as JHS but diagnosis and understanding is key.

 

Physiotherapy is adapted, and includes more work on core strengthening, joint proprioception and fitness training.  Patients may also benefit from classes which help core stability and balance, such as Pilates and Tai Chi

NB Practice points: ·      Quickly look for hypermobility in patients chronic joint and MSK pain, and assess the Beighton score ·       Non-articular complications include autonomic dysfunction such as ‘IBS’ due to gut dysmotitility, and  laxity leading to hernias, prolapse etc. ·       Obstetric complications such as PROM, precipitate delivery and perineal injury – refer antenatally ·         Over-vigorous physiotherapy will make it worse; core strengthening is key

   

 

References and resources:

 BMJ2010;341:c3044 click here

 BMJ2011;342:c7167 click here

 NHS information click here

 Beighton score with images click here