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Clinician’s Guide to JHS

Posted By Alan Hakim, August 27, 2013

Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome Hypermobility Type (EDS-HM)

A Brief Guide for Medical Professionals on Presentation, Diagnosis, and Treatment

 

Dr A J Hakim MA FRCP

Consultant Rheumatologist and Acute Physician, Barts Health NHS Trust, London and

Chief Medical Advisor, The Hypermobility Syndromes Association

Updated 24th August 2013, Version 2, Review Date August 2016


1. Presentation, Signs and Symptoms

1.i. Joint hypermobility is very common in the general population, affecting 20-30% of individuals to some degree either in isolated joints or more generalised. It is most common in childhood and adolescence, in females, and in Asian and Afro-Caribbean races. Joint hypermobility tends to lessen with ageing.

1.ii. Joint hypermobility may be of no medical consequence and might even confer advantages for dancers, musicians and athletes. However, it may be associated with:

  • Recurrent joint sprains and ligament and tendon injuries;
  • Acute pain as a consequence of acute injury;
  • Sustained chronic pain due to sensitization and amplification of pain in peripheral nerves and the spinal cord;
  • Poor proprioception (awareness of joint position) and spatial awareness that can lead to injury;
  • Joint subluxation (incomplete dislocation) or dislocation of joints; and
  • Is a common feature of a number of Hereditary Disorders of Connective Tissue (HDCT), a group of conditions that includes Ehlers Danlos Syndrome (EDS).
  • Symptoms often worse around the menstrual period due to changes in the balance between oestrogen and progesterone at this time.

1.iii. Joint Hypermobility Syndrome (JHS) is a complex spectrum of signs and symptoms of varying degrees and combination. As described in 2.ii it is considered synonymous with the Hypermobility variant of Ehlers-Danlos Syndrome (Tinkle et al 2009). For the purposes of this commentary the two terms are considered inter-changeable.

Signs and Symptoms include:

  • Hypermobility of joints, including axial as well as peripheral joints;
  • Joint dislocation and/or subluxation;
  • Degenerative changes of joints;
  • Recurrent soft tissue injuries that typically take longer than average to heal and may become chronic, persistent injury;
  • Skin fragility with stretchy skin, easy bruising, scarring, and stretch marks;
  • Weakness of the abdominal and pelvic wall with herniation and prolapse;
  • Cardiovascular and gastrointestinal autonomic dysfunction that manifest as hypotension, faints / blackouts, and ‘irritable bowel syndrome’ / gastroparesis;
  • Cardiac mitral valve prolapse;
  • Varicose veins;
  • Resistance to local anaesthetics;
  • Chronic regional or widespread pain (expanded description in section 1.04)
  • Chronic fatigue (expanded description in section 1.iv); and
  • Anxiety (expanded description in section 1.v).

1.iv. JHS patients often have with profound fatigue (Voermans et al 2010) and chronic widespread pain (Castori et al 2012) with multiple hyperalgesic trigger points, such that a diagnosis of Chronic Fatigue Syndrome (CFS) (Fukuda et al 1994) or Fibromyalgia (FM) (Wolfe et al 1990) might also be considered as present respectively (Hakim et al 2010). Rather than the three disorders being simultaneously present, in cases of JHS it is common to find FM-like sensitivity to touch that manifests as pain, and fatigue that is severely disabling and similar in its abnormal pattern and impact on daily life to the fatigue experienced in CFS, a condition typically triggered by a significant infection.

The chronic pain of JHS is typically both myalgia-like and ‘neuropathic’ Castori et al 2010) and arises in the absence of evidence of nerve abnormality (entrapment) on diagnostic testing e.g. nerve conduction studies, and in the absence of endocrine or metabolic disorder. Neuropathic pain may manifest with symptoms that include numbness, ‘pins and needles’, hypersensitivity (light touch induces pain), and pain sensation similar to burning.

1.v. Primary anxiety states such as phobias and panic attacks have been reported in JHS, manifest as anxiety and depression in 10% and 15% respectively of cases (Bulbena 1993 and 2011). The most common trigger is distress in response to symptoms such as those described above, and not a consequence of formal mental disorder.

1.vi. The impact of each of the issues described above can, in isolation, but more often in combination, have a profoundly negative impact on the quality of an individual’s life being both physically and psychologically disabling. (Grahame 2008, Rombaut et al 2010).

1.vii. JHS may be ‘silent’ i.e. asymptomatic and physical signs not recognized as pathological. Symptoms typically develop over a number of months or years without obvious trigger, but may suddenly arise as a consequence of trauma. It is also noted that joints stiffen with age and that many of the features of hypermobility are historical (Hakim and Grahame 2003).

1.viii. JHS patients also experience irritable bowel-like and mechanical pathologies of the gastrointestinal system (Zarate-Lopez et al 2010, Fikree et al 2013), bladder pathology that may be due to weakness of pelvic floor and/or neurogenic, and cardiovascular autonomic dysfunction with postural hypotension and tachycardia/palpitations (Hakim and Grahame 2004, Bravo and Wolfe 2006, Mathias et al 2011).

2. Diagnosis of JHS and EDS-HM

2.i. The diagnosis is made clinically based on symptoms and signs, including historical pathologies, and use of the Brighton Criteria (Grahame et al 2000). An individual on average first reports to their general practitioner approximately 2 years after symptoms begin. On average a diagnosis may take 10 years to be made (Hakim 2012), the reasons for delay (authors view based on clinical experience, and opinions offered by patients) often due to a combination of complex and often seemingly unrelated symptoms that arise over time, and limited awareness of the syndrome among clinicians (Hakim 2004, Hakim and Grahame 2004).

2.ii. JHS and EDS-HM are the most common of the hypermobility conditions. The terminology can be confusing because some experts use them inter-changeably. Also EDS-HM was formerly called EDS-Type III (Beighton et al 1998), until the numbering system for the various types of EDS defined in the Villefranche criteria was amended.

The Brighton criteria for diagnosing JHS (Grahame et al 2000) arose from rheumatologists recognizing an association between hypermobility, acute injury to joints and soft tissues and chronic pain. The criteria for diagnosing EDS-HM are based on observation of geneticists and clinicians that a more minor clinical variant the rarer forms of EDS is often found and in that these people are hypermobile and experience chronic pain. Some experts therefore now consider JHS and EDS-HM to be the same condition, albeit derived from different clinical perspectives. Whether JHS or EDS-HM is diagnosed is down to clinical judgement. There is no absolute medical consensus on this matter.

2.iii. The genetics of JHS / EDS-HM is not understood though it does have a dominant inheritance pattern. Genetic testing is not routinely performed in patients clinically diagnosed with JHS / EDS-HM but may be undertaken if there is concern regarding overlap with rarer conditions where hypermobility may be present such as the Classical or Vascular types of Ehlers Danlos Syndrome or of Marfan Syndrome. Although the inheritance has an autosomal dominant pattern of behaviour i.e. broadly speaking a 50% or greater chance of being passed on, the penetrance (clinical signs and complications) can be highly variable between members of the family.

In many cases family members have never been aware of its presence as there has been no concerning pathology.

2.iv. Imaging may be undertaken, typically looking for:

  • Evidence of early degenerative disease of the joints that may arise as a consequence excessive mobility;
  • Presence of excessive hypermobility;
  • Concern over a rare form of bone disorder associated with collagen deficiency e.g. osteogenesis imperfecta;
  • Nerve root or cord compression consequent on hypermobility or nerve tethering (e.g. cauda equina syndrome);
  • Osteopenia or Osteoporosis;
  • Pneumothorax (collapsed lung);
  • Cardiac valve, and aortic arch vascular disorder; or
  • Vascular aneurysm.

It should be noted that most often imaging is normal. Joint instability may only be demonstrable by dynamic imaging with ultrasound or positioning joints at the limit of their extension or rotation.

It should also be noted that there is no hard evidence for or against early Osteoarthritis (OA) in this patient group. Those that do develop early OA have typically overworked these joints very hard and for a long time e.g. dance, gymnastics.

2..v. Haematological, Biochemical and Immunological tests may be undertaken to exclude other causes of rheumatic disease or fatigue.

2.vii Biochemical blood sampling and skin biopsy may be undertaken to identify collagen, fibrillin or elastin disorders if there is concern regarding the presence of a rare form of HDCT.

3. Treatment and Outcome in JHS

3.i. Treatment of JHS in most respects is the same as other conditions of chronic widespread pain, dysautonomia and anxiety / depression. Treatments are no more or less successful or different in JHS than they are in other pain syndromes (Castori et al 2012) but should be tailored to the individual. For NICE guidance on neuropathic analgesics click here.

The exception is the need for adaptation of physical therapies (Ferrell et al 2004, Hakim and Ashton 2005, Simmonds and Keer 2007 and 2008). These need to take account for the pre-injury greater than normal range of joint movement, joint instability, risk of soft tissue injury, poor proprioception, and take a global approach rather than simply a regional approach (Hakim et al. 2010). The fear of movement (kinesophobia) should be assessed and managed, and is associated with pain and fatigue (Celletti et al. 2013).

3.ii. The physical and pain manifestations of the syndrome are treated with a combination of physical therapies (e.g., Physiotherapy, Occupational Therapy, Exercise programmes such as Pilates and Tai Chi); analgesics that might include anti-depressants and anti-epileptics at analgesic doses; muscle relaxants; and pain management programmes (that would include cognitive behavioural therapy).

The effectiveness of these interventions is such that patients with a spectrum of complexity to their condition report the following self-perceived benefits (Hakim 2012), based on a scale of 0 to 10 where 0 is completely ineffective and 10 is complete effective:

  • Analgesics: 70% of patients report 5/10 or higher for effectiveness; and 35% 7/10 and higher.
  • Pain management / Coping strategies: 70% of patients report 5/10 or higher for effectiveness; and 45% 8/10 and higher.
  • Physiotherapy: 65% of patients report 5/10 or higher for effectiveness; and 30% 8/10 and higher.
  • Self-exercise and education: 60% of patients report 5/10 or higher for effectiveness; and 30% 8/10 and higher.
  • Pilates: 85% of patients report 5/10 or higher for effectiveness; and 55% 8/10 and higher.
  • Overall improvement in wellbeing: 55% report improvements in their ability to cope with their condition, and a further 25% stability at the same level of disability following treatment interventions.

3.iii. The balance of probabilities that an individual with complex pain and mechanical problems from JHS is that 80% would be expected to remain stable or improve unless a new event arose and their circumstances changed. 60% would be anticipated to report good to excellent levels of benefit from treatment (i.e. scores of 5/10 or above), and 30% very good to excellent scores (i.e. scores of 8/10 or above).

3.iv. The average period of recovery is 12-18 months from the onset of the correct treatment interventions. A proportion of patients will take longer, some will be ineffective (up to 20% (Hakim 2012)), and maintenance of wellbeing is life long.

3.v. Fatigue can be a limiting factor in recovery. Causes for fatigue should be excluded and treated, and this includes management of autonomic disturbances, and bowel and bladder pathologies. The management of pain, poor sleep, and the improvement of physical fitness would be anticipated to reduce levels of fatigue.

Sources of more information

Hakim A, Keer R, Grahame R. 2010. Hypermobility, Fibromyalgia, and Chronic Pain. Elsevier, Churchill-Livingston, London

www.hypermobility.org – This is the website of the Hypermobility Syndromes Association (HMSA). The site includes information for patients and clinicians, the contact details for HMSA regional group leaders, expert clinician and clinic contacts, and links to many useful allied websites.

References

Beighton P et al. 1998. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 77(1):31-7.

Bravo JF, Wolff C. Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. Arthritis Rheum. 2006 Feb;54(2):515-523.

Bulbena A et al. 1993. Anxiety disorder in the joint hypermobility syndrome. Psychiatric Res. 43:59-68

Bulbena A et al. 2011. Joint hypermobility syndrome is a risk factor trait for anxiety disorders: a 15-year follow-up cohort study. Gen Hosp Psychiatry. 33(4):363-70.

Camerota F, Celletti C, Castori M et al. 2010. Neuropathic Pain is a Common Feature in Ehlers-Danlos Syndrome. J Pain Symptom Manage. 2010 Dec 7.

Castori M, Morlino S, Celletti C et al. 2012. Management of pain and fatigue in The joint hypermobility syndrome: principles and proposal for multidisciplinary approach. Am J Med Genet A. Aug;158A(8):2055-70. Review

Celletti C, Castori M, La Torre G, Camerota F. 2013. Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. Biomed Res Int. 580460. Published online 2013 July 14. doi:  10.1155/2013/580460

Ferrell WR, Tennant N, Sturrock RD et al. 2004. Amelioration of symptoms by enhancement of proprioception in patients with joint hypermobility syndrome. Arthritis Rheum. Oct;50(10):3323-8.

Fikree A, Aziz Q, Grahame R. 2013. Joint hypermobility syndrome. Rheum Dis Clin North Am. 2013; 39(2):419-430. Review

Fukuda K, Straus SE, Hickie I et al. 1994. The chronic fatigue syndrome: a comprehensive approach to its definition and study. The International Chronic Fatigue Study Group.  Annals of Internal Medicine. 121: 953-959.

Hakim AJ. 2004. Joint Hypermobility Syndrome: An under diagnosed Condition. Pulse 2004;64(32): 32 Review

Hakim A. 2012. A Patient Survey of Treatment Outcomes in Joint Hypermobility Syndrome. HMSA Newsletter, Nov. pp25-26

Hakim AJ, Ashton S. 2005. Undiagnosed, Joint Hypermobility Syndrome patients have poorer outcome than peers following chronic back pain rehabilitation. Rheumatology. 44(3) Suppl 1: #255 Abstract

Hakim AJ, Graham R. 2004. High prevalence of joint hypermobility syndrome in clinic referrals to a North London community hospital. Rheumatology, 43(3) Suppl 1:198

Hakim A, Keer R, Grahame R. 2010. Hypermobility, Fibromyalgia, and Chronic Pain. Elsevier, Churchill-Livingston, London

Grahame R. 2008. Hypermobility: an important but often neglected area within rheumatology. Nat Clin Pract Rheumatol. Oct;4(10):522-4.

Grahame R, Bird H, Child C. 2000. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol. 27:1777–779

Grahame R and Keer R. 2003. Hypermobility Syndrome: Recognition and Management for Physiotherapists. Butterworth Heinemann, London.

Keer R and Butler K. 2010 Physiotherapy and Occupational Therapy in the Adult. In Hypermobility, Fibromyalgia, and Chronic Pain [editors Hakim A, Keer R, Grahame R.] Elsevier, Churchill-Livingston, London, pp 143-163

NICE 2013. Neuropathic analgesics. http://publications.nice.org.uk/drug-treatments-for-neuropathic-pain-ifp173/about-this-information

Mathias CJ, Low DA, Iodice V et al. 2011. Postural tachycardia syndrome–current experience and concepts. Nat Rev Neurol. Dec 6;8(1):22-34.

Rombaut L, Malfait F, Cools A et al. 2010. Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. Disabil Rehabil. 32(16):1339-45.

Simmonds JV, Keer RJ. 2007. Hypermobility and the hypermobility syndrome. Manual Therapy. Nov;12(4):298-309.

Simmonds JV, Keer RJ. 2008. Hypermobility and the hypermobility syndrome, part 2: assessment and management of hypermobility syndrome: illustrated via case studies. Manual Therapy. May;13(2):e1-11

Tinkle BT, Bird HA, Grahame R et al. 2009. The lack of clinical distinction between hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome. Am J Med Denet A.149A(11):2368-70.

Toyone T, Takahashi K, Kitahara H et al. 1994. Vertebral bone-marrow changes and degenerative lumbar disc disease. J Bone Joint Surgery, 76-B:757-764

Voermans NC, Knoop H, van de Kamp N et al. 2010. Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. Semin Arthritis Rheum. 2010 Dec;40(3):267-74.

Wolfe F, Smythe HA, Yunus MB et al. 1990. The American College of Rheumatology 1990 criteria for the classification of fibromyalgia: report of the multicenter criteria committee. Arthritis Rheum. 33: 160-172.

Zarate-Lopez N, Farmer AD, Grahame R, et al. 2010. Unexplained Gastrointestinal Symptoms and Joint Hypermobility: Is Connective Tissue the Missing Link? Neurogastroenterology and Motility. 22:252-62.

 


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