Latest News

Hypermobility & Illness

Posted By Donna Wicks, October 1, 2012

Introduction

Hypermobility is the term used to describe the ability to move joints beyond the normal range of movement. In everyday language the non-medical term ‘double-jointed’ is often used.  This article describes the different levels of problems someone with hypermobility might have, how hypermobility is diagnosed, and how it may be associated with other medical problems and the hypermobility syndromes. It outlines the syndromes that are most often associated with hypermobility and how they can appear to overlap in their signs and symptoms. It also addresses the very commonly asked question as to whether there is a difference between the most common of these conditions, Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HM). You can click on certain key words that have been underlined. This will take you to other sections of the HMSA website.

How is hypermobility associated with ill health?

The first thing to appreciate is that joint hypermobility is common in the general population. It may be present in just a few joints or it may be widespread. It is most common in childhood and adolescence, in females, and Asian and Afro-Caribbean races. It tends to lessen with age. Joint hypermobility may be of no medical consequence, commonly does not give rise to symptoms, and might even be an advantage for dancers, musicians and athletes.

However some hypermobile people can injure their joints, ligaments, tendons and other ‘soft tissues’ around joints. This is because the joints twist or over extend easily, may partially dislocate (or ‘sublux’), or in a few cases may actually dislocate. These injuries may cause immediate ‘acute’ pain and sometimes also lead to longer-term ‘chronic’ pain.

The majority of hypermobile people recover from an injury though this may be slower than normal. Some hypermobile people, however, either only partially recover or continue to repeatedly injure various parts of their body. This is one presentation of JHS.

These problems can interfere with daily activities of living, and/or schooling or work. The pain associated with this can become widespread and persistent and might initially be diagnosed as or confused with another condition called Fibromyalgia.

Severe fatigue can also become an issue. It is often driven by the chronic pain and poor sleep patterns. This may be confused with a condition called Chronic Fatigue Syndrome. It is important to make the right diagnosis as the approach to treatments like physiotherapy may be different.

The next thing to appreciate is that in addition to the above, joint hypermobility is commonly found in a group of conditions called Hereditary Disorders of Connective Tissues (HDCT). The most common of these is JHS. This group of conditions also include Ehlers-Danlos Syndrome and Marfan Syndrome.

The image below shows various groups of people with hypermobility within the general population. The top level is shown as wide and green to represent the majority of hypermobile people. Here there are no particular problems; the individual is ‘asymptomatic’. The next two levels represent smaller numbers of people with varying degrees of severity of problems related to their joints and other parts of the body. Finally the lowest level, in red, is narrow and represents a small number of people in the population who have the more rare forms of HDCT.

hypermobility

But if that was not already complicated enough there are a couple of other things to consider:

The first is that other illnesses that cause fatigue and pain can appear in otherwise healthy hypermobile people – for example Chronic Regional Pain Syndromes (CRPS), Chronic Widespread Pain (CWP), Chronic Fatigue Syndrome (CFS) or Fibromyalgia (FM) may arise in their own right. This does not necessarily mean that the person now has Joint Hypermobility Syndrome just because they are hypermobile as well – there are very specific criteria for the diagnosis of CFS or FM and a balanced view has to be taken as to which is the principle problem. But, in someone who is also hypermobile it is advised that particular care has to be taken with physical treatments such as physiotherapy and exercise advice so as not to strain the hypermobile joints.

The second is that there is overlap in the signs and symptoms of the different forms of hypermobility syndromes and the clinician must consider this carefully when making a diagnosis. It often boils down to the severity of signs and the types of signs present when trying to separate JHS from EDS. This is discussed more below in the section that considers the diagnoses of JHS vs EDS-Hypermobility type. It is also discussed in the section on the Marfanoid body shape (habitus).

If we now reconsider the diagram above we can add to it the following: here we aim to show that people with CWP, CFS and FM can be hypermobile or may have JHS; that JHS and EDS may present in similar ways; and that the very complex systemic problems of the bowel, lungs, heart and blood vessels are features of conditions such as EDS and Marfan syndrome, and not JHS.

Slide1

It is easy to understand how one might be confused about which diagnosis they have among the pain / fatigue syndromes. However, it is not particular to these pain syndromes that a diagnosis may be not so clear cut. We see this also in other areas of Rheumatology. The best examples are people with inflammation in their joints but no abnormalities of their blood tests (so called sero-negative inflammatory arthritis), and people with inflammation / damage of various organs of the body but for whom no clear cut diagnosis can be made from the tests (so called undifferentiated autoimmune disease): in such cases all the symptoms and signs are managed accordingly – it should be no different in the chronic pain and hypermobility syndromes!

How is hypermobility diagnosed?

First and foremost the word ‘diagnosis’ should be used with caution as it suggests a medical condition. For the vast majority of individuals their hypermobility is just the way they are built and may be of no consequence in terms of symptoms and function.

Any joint can be hypermobile. The term simply describes the ability to move the joint beyond what is considered to be the normal range. But there may be clues in that a joint may feel like it is slipping (subluxing), and ‘clonking’ back in to place during movement. More obvious is a dislocation after no or minimal trauma.

Healthcare professionals may quote the Beighton Score which is a nine-point scoring system that looks for hypermobility in the 5th finger, thumb, elbow, and knee on both sides of the body, and the ability to bend forward and place the palms of the hands flat on the floor without bending the knees.

Although this scoring system has had its use in research studies it is not the only observation that should be made in a clinical examination. Hypermobility is often found at the jaw, neck, shoulders, other small joints of the hands and feet, hips, ankles and mid-foot.

What other problems might a person with hypermobility have to suggest there is an underlying medical condition?

The things individuals might most often present with beyond joint problems include:

  • Easy bruising, scarring that is stretched, thin and often wrinkled, and stretch marks that appeared at a young age and in many places across the body. The skin often feels soft and velvety;
  • Weakness of the abdominal and pelvic wall muscles that presents as hernias (such as hiatus hernia) or prolapse of the pelvic floor causing problems with bowel and bladder function;
  • Unexplained chest pains  – perhaps the individual has been told they have a heart murmur and mitral valve prolapse;
  • Blackouts or near blackouts that may be associated with low blood pressure or fast heart rate, and often triggered by change in posture from lying/sitting to standing, or after standing in one position for even just a few minutes; Click HERE for more information on these symptoms;
  • Symptoms that sound like Irritable Bowel Syndrome with bloating, constipation, and cramp-like abdominal pain; Click HERE for more information on managing bowel problems;
  • Shortness of breath, perhaps diagnosed as asthma because the symptoms seem the same, but not responding to inhalers in the way the doctor might have expected, because it is not true asthma;
  • Noticing that local anaesthetics, used for example in dentistry, do not seem to be very effective or require much more than might be expected;
  • Severe fatigue; click HERE for more advice on fatigue;
  • Anxiety and phobias.

These are often found in JHS and the most common form of Ehlers-Danlos Syndrome – EDS-HM. Aside from the joint problems described earlier, a person might have none or may have any combination of these, or indeed may never develop these problems.

There are a number of ways in which all these concerns can be investigated and managed with the support of doctors, nurses, physiotherapists, occupational therapists, and allied health professionals with expertise in this area of healthcare and wellbeing. More information on the various aspects of care is available throughout the HMSA website  – see the ‘Booklets and Books’, and ‘Help and Advice’ pages.

How do the hypermobility syndromes overlap?

The image below depicts the overlap between JHS, EDS, Marfan Syndrome, and to some degree Osteogenesis Imperfecta. Clinically the diagnosis of JHS and EDS-HM is all about the degree of severity of physical signs but also, and very important, the exclusion of any concern that there may be Marfan Syndrome, Vascular EDS or fractures associated with Osteogenesis Imperfecta.

HDCTs

There are a number of more rare variants of EDS such as the Classical and Vascular types where individuals have very severe bruising, lax skin, and scarring. In the Vascular type there is a risk of rupture of blood vessel. More can be found out about these by clicking on the link at the end of this article.

In Marfan Syndrome the key risks are blood vessel and heart problems (including tears and ruptures of vessels and leaking of the aortic valve of the heart). In addition  eye lens problems may occur. Fortunately these are not features of the more common conditions such as JHS and EDS-HM. The marfanoid body shape is a common feature of Marfan Syndrome. It may also be present in JHS and EDS-HM but here it is not associated with the risks of developing the vascular or eye problems.

Some individuals with JHS or EDS-HM may have moderately low bone density but not necessarily the very low density that one sees in osteoporosis. This moderately low bone density is called ‘osteopenia’. It would be unusual to see a JHS and EDS-HM person develop lots of fractures as a child or young adult. If this should occur then Osteogenesis Imperfecta should be considered and excluded.

Is there a difference between Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome?

The most important thing to appreciate is that the investigations, management, and advice are exactly the same for both JHS and EDS-HM.

JHS and EDS-HM are the most common of the hypermobility conditions. The terminology can get a little confusing because some experts will use them inter-changeably. Also EDS-HM was formerly called EDS-Type III, but the numbering system for the various types of EDS has changed.

The criteria for diagnosing JHS (the Brighton Criteria) arose from recognizing an association between hypermobility, acute injury to joints and soft tissues and  chronic pain. Initially it included things like mild variants of the skin changes described above, and the often-found body shape called the marfanoid habitus. It then developed further over the last decade as associations with, for example, bowel, autonomic cardiovascular, and pelvic floor problems became clear. These new findings, however, have not yet been incorporated into the formal criteria for JHS.

The criteria for EDS-HM is based on observation of minor clinical features often seen in other forms of  EDS and that the person is hypermobile and experiences chronic pain These might include clinical findings such as severe dislocations, more florid skin signs (in particularly increased elasticity), a large curvature of the spine (a scoliosis), prolapse of the mitral valve of the heart, or association with dental or gum disease. However, these patients will also exhibit the same findings as those described for JHS.

Currently there is no genetic test that can identify either condition or separate them.

Some experts 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. A doctor might, for example, use one term rather than the other dependent on the type and severity of issues present. EDS-HM might be the preferred name to give an individuals’ condition if there are findings such as those described above (severe dislocations, more florid skin signs, etc.). However, again only for example, the term JHS might be the preferred term if the principle issue is one of joint pain around hypermobile non-dislocating joints with few other signs.

links

To find out more about the more rare forms of HDCTs click on the following links. This will take you to the websites of other charitable organisations. Please note that the HMSA is not responsible for this information but considers it helpful for some of its members.

Marfan Syndrome (this will take you directly to a description of the clinical features, investigation of, and care of Marfan Syndrome on the USA website, National Marfan Foundation).

Sticklers Syndrome (this will take you to the clinical and genetic description of Sticklers syndrome at the Stickler Syndrome Support Group).

Osteogensis Imperfecta (the link will take you to the Osteogenesis Imperfecta Foundation, USA, a National organisation with a repository of helpful information including clinical research).

 

Dr Alan J Hakim MA FRCP
Consultant Physician and Rheumatologist
Hon. Senior Lecturer
Barts Health NHS Trust and Queen Mary University London

Written June 2013. Revised December 2013 – Version 3. Planned Date for Review June 2016

Academic References

Beighton PH, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis. 1973; 32: 413-417.

Beighton P, De Paepe A, Steinmann B, Tsipouras P,Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998;77(1):31-37.

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

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

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

Grahame R, Bird HA, Child A et al. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000 Jul;27(7):1777-79.

Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47(7):476-478.

Mathias CJ, Low DA, Iodice V, Owens AP, Kirbis M, Grahame R. Postural tachycardia syndrome–current experience and concepts. Nat Rev Neurol. 2011 Dec 6;8(1):22-34.

Mohammed SD, Lunniss PJ, Zarate N, Farmer AD, Grahame R, Aziz Q, Scott SM.Joint hypermobility and rectal evacuatory dysfunction: an etiological link in abnormal connective tissue? Neurogastroenterol Motil. 2010 Oct;22(10):1085-e283.

Morgan AW, Pearson SB, Davies S, Gooi HC, Bird HA. Asthma and airways collapse in two heritable disorders of connective tissue. Ann Rheum Dis. 2007;66(10):1369-73

Rombaut L, Malfait F, Cools A, De Paepe A, Calders P. 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.

Soyucen E, Esen E.Benign joint hypermobility syndrome: a cause of childhood asthma? Med Hypotheses. 2010;74(5):823-4

Stickler GB, Belau PG, Farrell FJ et al. Hereditary progressive arthroopthalmopathy. Mayo Clin Proc 1965; 40: 433-455.

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

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

 


Disclaimer
The information provided by the HMSA should not take the place of advice and guidance from your own health-care providers. Material in this site is provided for educational and informational purposes only. Be sure to check with your doctor before making any changes in your treatment plan. Articles were last reviewed by our Medical Advisors as being correct and up to date on 5th June 2004.

Please be aware that information posted on the discussion boards is the opinion of the authors and has not necessarily been approved or endorsed by the medical advisors.