Joint hypermobility syndrome
BMJ 2011; 342 doi: https://doi.org/10.1136/bmj.c7167 (Published 20 January 2011) Cite this as: BMJ 2011;342:c7167All rapid responses
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Excessive movements of joints are regarded as hypermobile. This condition has been now seen in detail considerable in clinical practise. Historically this was investigated in 1916 (Finkenstein) and Key (1927) followed by Sutro (1947) and Kirk (1967).Subsequent report led to the definition of hypermobility syndrome.
Other important versions of joint hypermobility syndrome, who share the similar phenotypic structure, are Marfan syndrome and Ehlers Danlos Syndrome.
There is a close amalgamation with hernia and heart valve dysfunction and lung tissue dilatation and rupture. Premature osteoarthritis is also a feature. In the spine the cervical vertebrae are the commonly affected .There is also strong evidence of premature osteoarthritis in weight bearing joints. Although all the complications may arise in hypermobility syndrome, chronic pain is arguably the most menacing and it is difficult to treat (1).
This is poorly recognised in childhood with a long delay in diagnosis (2).Surprising a large proportion is associated with significant neuromuscular and motor development problems. There should be awareness in the correlation between injury and hypermobility .A special emphasis should be on improving the strength and prevent further episode .A multidisciplinary approach must be recognised to manage and pursue rehabilitation of the condition and its associated musculoskeletal conditions.
Reference:
1. Grahame R .Joint hypermobility syndrome pain .Curr Pain Headache Rep. 2009 Dec; 13 (6):427 -433.
2. Adib N, Davies s K, Grahame R, Woo P, Murray KJ.Joint hypermobility syndrome in child hood .A not so benign multisystem disorder? Rheumatology (Oxford).2005 June; 44(6):744- 50
Competing interests: No competing interests
Eccles et al note that joint hypermobility is commonly associated
with psychiatric, anxiety and psychosomatic presentations.(1)
For at least one psychiatric disorder with joint hypermobilty, there
is a known genetic cause. Both joint hypermobility and anxiety are
clinical features of Fragile X syndrome which is a result of expansions of
CGG repeats at the 5' untranslated region of the FMR1 gene which is
located at q27.3 on the X chromosome. The expansion silences transcription
of the protein FMRP, a protein which normally regulates protein synthesis
at neuronal dendrites. This loss of regulation is an explanation for the
finding of abnormally long and immature dendritic spines in the brains of
people with Fragile X syndrome and of the consequent phenotypic
presentations of impaired learning and memory (2), and as prompted by
Eccles et al, by anxiety.
It may transpire that Fragile X syndrome is the prototype joint
hypermobilty brain- body interaction disorder, and joint hypermobilty may
also be a sub-phenotype of Fragile X syndrome.
1. Eccles J, Harrison N, Critchley H. Joint hypermobilty: psychiatric
manifestations. BMJ 2011: 398-399.
2. Garber K, Visootsak J, Warren T. Fragile X syndrome. European
Journal of Human Genetics 2008; 16: 666-672.
Competing interests: No competing interests
Undoubtedly hypermobility (HM) and hypermobility syndrome (HMS) is missed in clinical practice and many a patient made to suffer from needless investigations and therapy. Still worse, the patient may be wrongly diagnosed as having rheumatoid arthritis and treated with long term steroids and disease modifying and immunosuppressive agents, I have often made these observations in my WHO-ILAR COPCORD (community oriented program for control of rheumatic diseases) population surveys in urban and rural India in the Pune regions (West India) which are published and in pub med.
I see all of what Grahame and Ross write and much more. HM is one of the oriental characteristics. HMS is not always benign. Ankle hypermobility is common and often associated with ankle pain, local tenosynovitis, heel and tendoachilles pains and uncommonly ankle swelling. This is more so in the farming rural community. Loose/hypermobile patellae are not too uncommon and a cause of anterior knee pain and dislocation. While checking on shoulder motion, I often am intrigued at the extent of motion in some of our patients.
Last but not the least, hypermobility of joints has a sinister significance in patients with inflammatory arthritis. Hypermobility allows excess motion in an inflamed joint which probably leads to more damage. Rheumatoid knees in my community often deteriorate rapidly with gross deformities and subluxation and this may be due to our obsession with squatting and sitting cross legged on the floor. But I wonder how much hypermobility would contribute to the latter situation in some cases. Inflamed joints can also lead to a certain extent of excess loosening and mobility. Clinically, hypermobility and inflamed joints may be an egg and chicken story. But all said and done, a clinician ought to look out for HM in all cases with musculoskeletal and joint pains. Irrespective of any other rheumatic disorder that may coexist, it is very comforting for the patient to learn that the problem is largely a benign disorder called HMS and that drugs have a very little role if any.
Competing interests: No competing interests
I would like to commend the authors of 'Joint hypermobility syndrome'
for their excellent article (1). A subsequent letter mentioned the
difficulty that may be encountered in women during positioning for labour
and operative delivery (2). This is certainly the case and such patients
should be discussed with the anaesthetic team in advance of delivery or
operative procedures for this precise reason. Another feature which was
not mentioned is the resistance to local anaesthetics which is a well
recognised feature in patients with joint hypermobility syndrome (3). It
is well recognised that these patients are difficult to manage in dental
settings because the local anaesthetic blocks may prove inadequate. In an
obstetric setting, this may mean that epidural analgesia for labour may be
insufficient or ineffective, and if used for an operative delivery
(instrumental or caesarean delivery) then it may prove inadequate. A
spinal anaesthetic may prove to be more reliable but this will vary
depending on the patient. Positioning a woman for labour with an epidural
will mean that great attention is needed to prevent inadvertent
subluxation of joints.
In the wider context of surgical intervention, the provision of
analgesia may prove difficult, especially if nerve blocks, post-operative
catheters or epidural analgesia is proposed for post-operative pain
relief. This should be fully discussed with the patient otherwise the post
-operative experience may be very unsatisfactory. If there is an awareness
of the potential for local anaesthetic resistance, then alternative
methods of analgesia, for example, patient controlled analgesia (PCA) may
be instituted early or as adjuvant therapy.
There is a recognised association with dysautonomia in these patients
(4). Great care should be taken in an obstetric setting when these women
are in labour as the valsalva response may be greatly exaggerated in these
women during labour (5). This may also cause an exaggerated hypotension
during regional or general anaesthesia. Indeed in the patients with severe
joint hypermobility syndrome, making a decision between allowing for a
vaginal delivery and a caesarean section can be very difficult. Vaginal
delivery may carry with it the chance of perineal trauma either by
spontaneous delivery or instrumental delivery. Large tears and tissue
disruption leading to fistulas and sphincter dysfunction have been
described. A caesarean may carry the risk of poor wound healing and wound
breakdown afterwards. There is a significantly increased risk of post
partum haemorrhage, and any factors likely to cause a massive obstetric
haemorrhage (placental abruption or placenta praevia) may be exacerbated
by the laxity of the connective tissues (6).
An appreciation of the unique challenges of patients with joint
hypermobility syndrome, and indeed the larger group of patients with
connective tissue disorders, will allow health professionals in an
obstetric or peri-operative setting to have a balanced discussion with the
patient regarding the potential caveats and the options available to allow
satisfactory management in difficult circumstances.
References:
1. Ross J, Grahame R. Joint hypermobility syndrome. BMJ 2011; 342:
c7167.
2. Molloholli M. Implications for obstetric care. BMJ 2011; 342: d1003.
3. Hakim AJ, Grahame R, Norris P, Hopper C. Local anaesthetic failure in
joint hypermobility syndrome. J R Soc Med. 2005 Feb; 98(2): 84-5.
4. Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the joint
hypermobility syndrome. Am J Med. 2003 Jul; 115(1): 33-40.
5. Jones TL, Ng C. Anaesthesia for caesarean section in a patient with
Ehlers-Danlos syndrome associated with postural orthostatic tachycardia
syndrome. Int J Obstet Anesth. 2008 Oct; 17(4):365-9.
6. Bird HA. Joint hypermobility. Musculoskel Care 2007; 5: 228-31.
Email: pavan.kochhar@cmft.nhs.uk
Competing interests: No competing interests
I used to think I was a bit of a crock, from a long line of crocks,
but when I read Ross and Grahames article on Joint Hypermobility Syndrome
(BMJ, Jan 20 2011) some pennies started to drop. My party trick has been
to touch my thumbs to the volar aspects of my wrists and to voluntarily
sublux my 1st MCPJ's (the article does not include that as a criterion but
all the women in my family can do that). I have "double-jointed" elbows
and knees which hyperextend, and a neurologist once noted I had an
"extraordinarily" flexible lumbar spine. So far, so bendy.
Then I read about the other manifestations and thought they were
probably true too, since I had already had a uterine prolapse repair at
the age of 37.
I thought that was it, but the letters published this week (BMJ 19
Feb) really started me thinking again. Firstly, Molloholli writes about
precipitate delivery, postpartum haemorrhage and incontinence - tick. Then
about subluxation of joints in labour - tick. I was delivered of my third
child in the McRoberts position which I now realise was a mistake. It
resulted in me not being able to move my legs independently for a week.
Then Dickson et al wrote of urinary stress incontinence in nullips - tick.
My difficultie were always attributed to post-delivery damage but in truth
they predated that - I was just too embarrassed to seek help. Lastly, and
not insignificantly, Eccles et al write of panic and anxiety as
manifestations of Joint Hypermobility Syndrome. Certain of the women in my
family have taken anxiolytics for as long as I can remember - I have never
taken any, but I suffer from anxiety which manifests in chronic insomnia
and bad dreams which I live with, managing them with exercise and good
sleep hygeine.
So am I just a bit of a crock? I now think maybe not.
Competing interests: No competing interests
We are very interested in the paper by Ross and Grahame (1), which
reviewed diagnosis, prevalence, and clinical management of joint
hypermobility syndrome. We fully agree that joint hypermobility syndrome
is underrecognized and underdiagnosed. However, the relationship between
anxiety disorders and joint hypermobility syndrome, a very well-established clinical feature of the collagen condition, was also neglected
in the article.
A significant association has been found between joint hypermobility
syndrome and anxiety disorders (particularly panic, agoraphobia and social
phobia) in rheumatologic patients (2). Furthermore, joint hypermobility
syndrome has been found to be 16 times more likely in patients with panic
disorder than other outpatients after controlling for age and sex (3).
Interestingly, both joint hypermobility syndrome and anxiety disorders
have similar prevalence in the general population, between 10% and 15%,
and have similar female predominance (3:1).
Although there is still no simple explanation for this association,
it has been hypothesized that there is a common personality trait between
both conditions since a predisposing factor for trait anxiety was found in
subjects with joint hypermobility syndrome in general population samples
(4). There are now two active lines of research: one in cytogenetic
findings (which requires replication) (5) and another in the significant
high prevalence of autonomic nervous system symptoms (dysautonomia) in
joint hypermobility patients (6).
We strongly recommend to assess the lifetime prevalence of anxiety
disorders, especially panic disorder, in joint hypermobility patients.
Panic disorder is a proper medical condition, not merely a reaction caused
by another illness. These data could shed new light onto the challenging
and prevalent psychosomatic field.
1. Ross J, Grahame R. Joint hypermobility syndrome. BMJ. 2011;
342:275 -7.
2. Bulbena A, Dur? JC, Porta M, et al. Anxiety disorder in the joint
hypermobility syndrome. Psychiatry Res 1993;43:59-68.
3. Mart?n-Santos R, Bulbena A, Porta M, et al. Association between the
joint hypermobility syndrome and panic disorder. Am J Psychiatry
1998;155:1578-83.
4. Bulbena A, Agullo A, Pailhez G, et al. Is joint hypermobility related
to anxiety in a non-clinical population also? Psychosomatics 2004;45:432-7.
5. Gratac?s M, Nadal M, Mart?n-Santos R, et al. A polymorphic genomic
duplication on human chromosome 15 is a major susceptibility genetic
factor for panic and phobic disorders. Cell. 2001;106:367-379.
6. Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the joint
hypermobility syndrome. Am J Med. 2003;115:33-40.
Competing interests: No competing interests
Ross and Grahame have highlighted that hypermobility is just one
visible feature of joint hypermobility syndrome. They have detailed the
breadth of physical complications including dysautonomia, premature
osteoarthritis and intestinal dysmotility suggesting a broader multi-
system phenotype. We would like to draw readers' attention to the frequent
psychiatric co-morbidity associated with joint hypermobility. In
particular, individuals with joint hypermobility syndrome are over-
represented in panic and anxiety populations presenting to psychiatrists
(1). This excess is suggested to be a large as a 16 times greater risk in
patients with joint hypermobility compared to non-hypermobile controls(2).
Joint hypermobility is more frequent in panic-disorder, where the degree
of hypermobility predicts the severity of anxiety(3). Joint hypermobility
is also linked to a number of psychosomatic disorders including Irritable
Bowel Syndrome(4), Chronic Fatigue Syndrome (5) and fibromyalgia.
Individuals with joint hypermobility exhibit similar autonomic
cardiovascular abnormalities to those with Postural Tachycardia Syndrome
(PoTS) (6, 7). A defining characteristic of PoTS, regardless of its
association with joint hypermobility, is an abnormally reactive autonomic
nervous system, in particular a sharp increase in heart rate on standing.
A phenomenological overlap, if not direct association, is also recognized
between PoTS and anxiety disorders (8).
These findings suggest that constitutionally determined brain-body
interactions may underlie this psychosomatic vulnerability and that joint
hypermobility may represent a subphenotype of anxiety disorder.
1. Garcia-Campayo J, Asso E, Alda M. Joint Hypermobility and Anxiety:
The State of the Art. Curr Psychiatry Rep. 2010 Oct 21.
2. Martin-Santos R, Bulbena A, Porta M, Gago J, Molina L, Duro JC.
Association between joint hypermobility syndrome and panic disorder. Am J
Psychiatry. 1998 Nov;155(11):1578-83.
3. Garcia Campayo J, Asso E, Alda M, Andres EM, Sobradiel N.
Association between joint hypermobility syndrome and panic disorder: a
case-control study. Psychosomatics. 2010 Jan;51(1):55-61.
4. Zarate N, Farmer AD, Grahame R, Mohammed SD, Knowles CH, Scott SM,
et al. Unexplained gastrointestinal symptoms and joint hypermobility: is
connective tissue the missing link? Neurogastroenterol Motil. 2010
Mar;22(3):252-e78.
5. Nijs J, Aerts A, De Meirleir K. Generalized joint hypermobility is
more common in chronic fatigue syndrome than in healthy control subjects.
J Manipulative Physiol Ther. 2006 Jan;29(1):32-9.
6. Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the joint
hypermobility syndrome. Am J Med. 2003 Jul;115(1):33-40.
7. Kanjwal K, Saeed B, Karabin B, Kanjwal Y, Grubb BP. Comparative
clinical profile of postural orthostatic tachycardia patients with and
without joint hypermobility syndrome. Indian Pacing Electrophysiol J.
2010;10(4):173-8.
8. Esler M, Alvarenga M, Pier C, Richards J, El-Osta A, Barton D, et
al. The neuronal noradrenaline transporter, anxiety and cardiovascular
disease. J Psychopharmacol. 2006 Jul;20(4 Suppl):60-6.
Competing interests: No competing interests
As Ross and Grahame(1) discuss, joint hypermobility syndrome and its
wider clinical implications are poorly understood by health professionals,
which can significantly compromise patient care. The authors mention the
risk of uterine prolapse and uterine rupture, but the syndrome has a
variety of additional risks for childbearing women. These include a higher
risk of premature rupture of the membranes(2), precipitate delivery(2) and
bleeding(3). Further risks are perineal trauma and subsequent poor wound
healing(4) and of later complications such as urinary(5) and faecal(6)
incontinence. Hypermobile women with unstable hip, knee or spinal joints
are vulnerable to injury if placed in inappropriate positions during
labour or operative delivery, and the use of regional or general
anaesthesia may increase this risk by eliminating pain when joints sublux
or dislocate. Careful, collaborative antenatal planning and clear
documentation of risks and care plans should be used to alert staff on
duty when women present in labour and thus reduce the incidence of some of
these complications.
1. Ross J, Grahame R. Joint hypermobility syndrome. BMJ. 2011;342:275
-7.
2. Bird HA. Joint hypermobility. Musculoskeletal care. 2007;5(1):4-
19.
3. Thornton JG, Hill J, Bird HA. Complications of pregnancy and
benign familial joint hyperlaxity. Annals of the Rheumatic Diseases.
1988;47(3):228-31.
4. Hakim A, Grahame R. Joint hypermobility. Best Practice &
Research Clinical Rheumatology. 2003;17(6):989-1004.
5. Connolly AM, Thorp Jr JM. Childbirth-related perineal trauma:
Clinical significance and prevention. Clinical Obstetrics and Gynecology.
1999;42(4):820-35.
6. Chiarelli P, Murphy B, Cockburn J. Fecal incontinence after high-
risk delivery. Obstetrics and Gynecology. 2003;102(6):1299-305.
Competing interests: No competing interests
From our experience in urogynaecology, we have elicited another
common clue that suggests joint hypermobility syndrome. This is the
symptom of urinary stress incontinence in the nulliparous woman. Urinary
stress incontinence is invairably the consequence of pelvic floor trauma
following childbirth. As such,it is exceedingly unusual in the woman who
has not given birth.
In recent years we have encountered several nulliparous women with
urinary stress incontinence. They were referred for a geneticist's
opinion,and all of these nulliparous women with urinary stress
incontinence were found to have joint hypermobility syndrome or Ehlers
Danlos syndrome.
These women were all young when they presented to the urogynaecology
clinic. We hope that by early identification of their joint hypermobility
syndrome, approprite advice and physiotherapy may delay, or possibly
prevent, the developement of pain and disability that can develope in
people with joint hypermobility syndrome.
Competing interests: No competing interests
Re: Joint hypermobility syndrome
Through my practice in the area of child and adolescent psychiatry, I have come across a few children and families who have this combination of hypermobility, Allergic Rhinitis and other allergies and Anxiety. I have often wondered if this combination is merely a chance finding or whether there is a logical explanation for this combined occurrence.
To consistently find patients who share these similar characteristic has fascinated me immensely and this review by Ross and Grahame looks to be a great starting point for research in this area.
Competing interests: No competing interests