non muscular symptoms (POTS etc) in joint hypermobility syndrome

Discussion in 'Fibromyalgia Main Forum' started by tansy, Jun 28, 2008.

  1. tansy

    tansy New Member

    Rheumatology 2004 43(9):1194-1195; doi:10.1093/rheumatology/keh279

    Letter to the Editor

    Non-musculoskeletal symptoms in joint hypermobility syndrome. Indirect evidence for autonomic dysfunction?
    A. J. Hakim1,2 and R. Grahame1

    1 Centre for Rheumatology, University College London Hospitals and 2 Academic Rheumatology and Osteoporosis Unit, Whipps Cross University Hospital, London, UK

    Correspondence to: A. J. Hakim, Whipps Cross University Hospital, Leytonstone, London E11 1NR, UK.


    Joint hypermobility syndrome (JHS) is a chronically disabling disorder manifested as widespread pain, fatigue, multiple soft tissue lesions and fragility of skin and supportive connective tissues [1]. It is a condition that is often overlooked by clinicians [2].

    Moreover, clinical experience suggests that previously unrecognized non-musculoskeletal symptoms, including presyncope, palpitations and bowel disturbance, are also common in JHS. Recent evidence demonstrates dysfunction of the autonomic nervous system as an explanation for these symptoms [3].

    Recognition of these symptoms by clinicians is an important part of patient assessment and education, even if the pathophysiology remains unclear.

    We have examined the prevalence of non-musculoskeletal complaints and explored their associations to determine whether they reflect a tendency to report multiple, non-specific concerns.

    One hundred and seventy women aged between 18 and 65 yr were seen in a teaching hospital hypermobility clinic over a 2-yr period. Each was diagnosed with JHS using the 1998 Brighton criteria [4]. Individuals completed a self-reported questionnaire enquiring about symptoms experienced on a ‘regular basis’.

    The questionnaire was structured so that patients were unaware of any hypothesis. Fifty female hospital staff acted as controls, having been identified as non-hypermobile by the use of a five-part self-report questionnaire [5].

    The symptoms explored clustered into five domains: (i) (pre)syncope (feel faint, actually faint, dizziness and light-headedness); (ii) cardiorespiratory (CR) (palpitations, chest pain and shortness of breath); (iii) gastrointestinal (GI) (nausea, stomach ache, diarrhoea and constipation); (iv) common JHS concerns (fatigue, joint pain, anxiety and depression); and (v) non-specific (migraine, allergy, rash, nocturia, dysuria, flushing, night sweats, fever, lymph gland pain and poor sleep).

    Similar symptoms were combined for analysis. For example, dizziness and light-headedness were considered synonymous with presyncope and were not treated as mutually exclusive. They were combined, so that a person giving both in their response was only counted once within the domain.

    We found that 41, 26 and 37% of individuals with JHS reported at least one symptom suggestive of a (pre)syncopal, CR or GI complaint respectively. This compared with 15, 12 and 16% of controls, despite controls being older by a mean of 13 yr [32 yr (range 18–65) vs 45 yr (range 23–64)].

    Pain, fatigue, anxiety and depression were, as one would expect, more common in JHS patients (91, 71, 32 and 38% respectively) than controls (30, 30, 12 and 8% respectively). Migraine, rashes and poor sleep were also over-represented amongst JHS patients. Other non-specific complaints (allergy, nocturia, dysuria, flushing, night sweats, fever and lymph gland pain) were equally

    Analysis was extended to look just at JHS patients, comparing those reporting (pre)syncopal, CR or GI concerns (or any combination of the three domains) against those who did not. Sixty per cent of patients recorded at least one type of concern relating to (pre)syncopal, CR or GI symptoms. Of this 60%, 28% reported concerns in one domain, 20% concerns within two domains, and 12% in all three.

    Those JHS patients classified as having symptoms in two or more of the three domains were found to account for 90% of all JHS patients reporting flushing or night sweats. Moreover, this group were three times more likely to complain of fatigue and anxiety [odds ratio 2.8 (95% confidence interval 1.3–6.3), P = 0.01] than their peers, fatigue and anxiety also being found to be independently associated with migraine and poor sleep (odds ratio 2.6 and 3.5 respectively). Age was not a confounder. No association was found with the other non-specific complaints (Fig. 2).

    We conclude that non-musculoskeletal symptoms are common in patients with JHS and that individuals with these symptoms may express more fatigue, anxiety, migraine, flushing, night sweats and poor sleep than their peers.

    The pathophysiological basis for these symptoms needs to be explored further but may be a complication of autonomic dysfunction.

    Alternative explanations might include the side-effect of medications, particularly analgesics and antidepressants, or the presence of comorbidity. In our experience, however, the majority of patients seeing us for the first time are no longer taking such medications as they have often been of little benefit. We note also that very few patients have specific cardiovascular, respiratory or bowel disease.

    Potential manifestations of autonomic pathology include cardiac dysrhythmias, postural orthostatic tachycardia syndrome, orthostatic hypotension and orthostatic intolerance.

    Mechanisms leading to such phenomena in JHS patients may include weakened vascular tissue elasticity and impaired peripheral vasoregulation as a consequence of adrenoceptor or neuronal abnormalities. Similar symptoms are found in chronic fatigue syndrome [6].

    Consequently, these disturbances might also be secondary and reflect a degree of physical deconditioning rather than a primary autonomic or connective tissue pathology. Further studies are required. In the meantime, clinical assessment should include an enquiry as to the presence of such symptoms, and health professionals should acknowledge that they are often encountered among patients with JHS.

    Ethical approval for the use of a general questionnaire identifying features of JHS both in clinical and epidemiological studies was gained from Guy's Hospital, London. Verbal consent was deemed sufficient.

    The authors have declared no conflicts of interest.


    Hakim AJ, Grahame R. Joint hypermobility. Best Pract Res Clin Rheumatol 2003;17:989–1004.[Medline]
    Grahame R, Bird H. British consultant rheumatologists’ perceptions about the hypermobility syndrome: a national survey. Rheumatology 2001;40:559–62.[Abstract/Free Full Text]
    Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the hypermobility syndrome. Am J Med 2003;115:33–40.[CrossRef][Medline]
    Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777–9.[ISI][Medline]
    Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract 2003;57:163–6.[Medline]
    Gerrity TR, Bates J, Bell DS et al. Chronic fatigue syndrome: what role does the autonomic nervous system play in the pathophysiology of this complex illness? Neuroimmunomodulation 2002;10:134–41.[CrossRef][ISI][Medline]
    Accepted 19 May 2004

    [This Message was Edited on 06/28/2008]
  2. tansy

    tansy New Member

    A higher incidence of JHS has been noted in ME, CFS, and FM. Additionally some patients who had previously been Dx with CFS have now had their diagnosis changed since being diagnosed with JHS.

  3. tansy

    tansy New Member

    **Joint hypermobility syndrome

    There are a group of children who generally have very mobile joints, particularly the knees, elbows and fingers which can bend backwards more than usual, and flattening of the arches of the feet. Medically this excessive mobility in joints is called joint hypermobility or ligament laxity.

    Children with joint hypermobility also tend to have pliable muscles that are weak. This makes sitting and standing erect tiring and uncomfortable, and the child may complain of pain in the legs with walking. Sometimes this is referred to as “low muscle tone”.

    Some children with joint hypermobility complain of pain and discomfort after being active, as well as pain in the legs at night. When a child has pain as a result of joint laxity, the term “benign general hypermobility disorder” is used to describe the condition.

    What is the cause of joint hypermobility?

    Joints are held together and by a joint capsule and ligaments. These structures are made of connective tissue which is tough, pliable and gives slightly when stretched.

    The amount of “give” in connective tissue differs between individuals. Stiffer connective tissue provides more protection for joints. In individuals with joint hypermobility the connective tissue is very compliant – it has a lot of give and is easily stretched. This allows the joints to bend more than usual and makes them more prone to injury.

    Muscles have a covering of connective tissue called the myofascia. The tendons of muscles are also made of connective tissue. The myofascia and tendons together play an important role in transferring the pulling force created by muscle contraction to the bone.

    When the connective tissue has more give, the muscles need to work harder to transfer the force created by the muscle contraction to the bones to bring about movement. This means that holding a posture or position (called stability) and moving the body requires much more effort for a child with hypermobile joints than for other children.

    Joint hypermobility is seen more often in girls than in boys, and there is a genetic factor in that joint hypermobility occurs in families.

    How joint hypermobility affects a child’s posture and movement

    • Babies and toddlers with joint hypermobility may be late in learning to crawl and walk.

    • Young children may avoid climbing and hanging activities that require strength and stability such playing on the climbing frame and monkey bars.

    • Hypermobility in the joints of the feet and ankles causes flat feet and dropped arches. These children also tend to sprain the ankles frequently.

    • Children with flat feet usually have weakness in the muscles of the foot and ankle, which makes running and jumping difficult. The child may walk with the feet turned outwards because of the weakness in the calf muscles.

    • Muscle weakness along with joint hypermobility contributes to poor posture in sitting and standing. The child may stand with a hollow back, rounded shoulders and the knees bent backwards and pointing towards each other.

    • The extra pliability in the connective tissue means that the receptors in the joints and muscles that inform the brain about the body’s position in space are less sensitive to changes in position and stresses on joints. This leads to poor body awareness and is one of the reasons why children with joint laxity sometimes have poor coordination and posture.

    • Sitting erect is tiring - the child sits with a slumped posture and will often prop herself up on the arms. This makes sitting and writing at a desk difficult for the child. The slumped posture places more strain on the already weak muscles and ligaments of the spine.

    • Handwriting may be tiring and difficult because laxity of ligaments in the hand and weakness in the shoulder muscles makes holding and moving the pencil difficult.

    • Some, but not all children with joint laxity complain of pain in their joints after vigorous exercise. As a result these children avoid strenuous exercise, which means that they tend to be less fit and have weaker muscles than other children. This is a vicious cycle – because children with joint laxity need to strengthen their muscles to protect their joints.

    • Children with joint hypermobility are more prone to injuries as well as back pain.**

  4. tansy

    tansy New Member

    From the Medscape website

    **A recently recognized and important cause of secondary POTS is due to the connective tissue disorder known as the joint hypermobility syndrome (JHS). An inherited condition, it is characterized by joint hypermobility, connective tissue fragility, and soft "velvety" skin with variable amounts of hyperextensibility.

    The condition is also associated with easy bruising, premature varicose veins, diffuse muscle and joint pain, and orthostatic acrocyanosis.

    Orthostatic intolerance develops in these patients due to the presence of abnormally elastic connective tissue in the vasculature, which results in an increase in vessel distensibility in response to the augmented hydrostatic pressure that occurs during orthostatic stress.

    This leads to excessive peripheral venous pooling with a resultant compensatory tachycardia.

    Recent studies have suggested that up to 70% of patients with hypermobility syndrome may suffer from some form of orthostatic intolerance. Adolescents with the developmental form of POTS frequently have been noted to have features of JHS. Studies are currently under way to better elucidate this potential relationship.**
  5. moreinfoplease

    moreinfoplease New Member

    Tansy, do you have joint hypermobility syndrome yourself? Was just wondering if so what your exp has been.

    I have cfids syptoms, and was recently diagnosed with POTS. Never had I heard of JHS. Then about a month ago I dislocated my knee, and from reading have discovered JHS, its connection to POTS, fatigue, maybe fibro and cfids.

    Also have discovered I meet almost all symptoms of JHS, 7/9 on the diagnosic scale. I am 39 years old, and no one--or, such as drs, for example--ever informed of this. I feel angry, althou not surprised.

    JMS explains why I have always, since I began holding a pencil, held it wrong, why I never crawled, all this mentioned in articles I've read online.

    With the exception of my knees (I've been aware that they hyperextend which contributes to poor posture) I never realized that my normal is not normal. I learned in the last week that my elbows, knees, wrists, fingers, shoulder all extend way past normal. Once again I feel betrayed by my body and the medical system.
  6. stinker56

    stinker56 New Member

    I never knew I had this until I requested my medical records from my rheumy when thinking about going to another rheumy.
    This explains my childhood to a "T". I never could do the climbing and hanging things other kids did and my legs always hurt. The doctor called it "growing pains" but I suppose in reality, I had this all along.
    My rheumy didn't seem too concerned about it when I asked him but did say I had probably had it my whole life and was definitely inherited.
  7. tansy

    tansy New Member

    Hi Moreinfoplease and Stinker

    Most people with JHS say the same; they thought what they experienced was normal. Though it can be less problematic as people get older it should still not be ignored.

    If POTS is caused by the blood pooling through weaknesses in the vascular system in JHS then it makes sense to find ways to address that. There used to be great info here on how to deal with blood pooling but it was posted years ago.

    Yes I have JHS and because it’s caused by a dominant gene I’ve been able to observe it in family members. Ironically the first person who suggested I had it was a GP I knew socially, through a sports club, who commented that my need for an increasing number of joint supports indicated this and perhaps I should find a better means of keeping fit. This was before acute onset ME.

    When my son was Dx by a rheumy 15 years ago he was told that it was more than just lax joints; so was sent to a PT who gave him a lot of advice and info. I have a sibling who’s markedly affected, and her classic hypermobility proportions are more extreme than ours, so until I became ill with ME I always felt I was the lucky one.

    Sadly most rheumies still don’t know enough about JHS; and amongst those who will Dx sadly many still see it as just lax joints.

    Some of my son’s ongoing health problems are related to JHS along with other factors often discussed here. He’s fortunately able to exercise, when he’s infection free, so has recently devised his own programme and that currently seems to be right for him.

    He power walks twice a day with his very fit dog, but wears the right footwear with tailor made supports. Three times a week he works out at the gym building up the muscles around injured/weak joints. Despite being advised to avoid contact sport he still played rugby when well enough to do so but took great care to build up the muscles supporting his spine first. He was warned contact sports could land him in a wheelchair.

    He takes supps and herbs, because of the vascular elasticity and serious health problems he’s had, and to help him build strong muscles. Atm he’s looking incredibly fit but he knows the risks and weighed those against what he wanted from life and how to minimize damage that would affect him long term.

    I use some of the same supps and when well enough use a pilates machine to strengthen my core muscles and lower limbs.

    tc, Tansy

  8. sorekitty

    sorekitty New Member

    I have hypermobility too. My rheumatologist dx it in 2003 when I was dx with fms. Whenever I mention it to a new doctor they don't say anything as if it isn't important. It seems like the stress on the joints would really impact the fibro pain. I try to remember to stand with knees slightly bent (at least it feels that way to me!).

    When the article mentions the fragile skin/velvet skin it reminded me of Erlers Danlos Syndrome. Are these connected at all? I had wondered if I had EDS.

    Thanks Tansy for more great info.

  9. dannybex

    dannybex Member

    I'm not sure if it's okay to post other websites on this board, but if you google ctds and hypermobility you'll find a great, easy to read website set up by a woman who was diagnosed with many of these and more, and found that their was a low magnesium and low vitamin K connection (among other things).

    Over time when she corrected these imbalances through dietary changes, these supposedly genetic diseases resolved.

    Google "ctds" and "hypermobility". :)

  10. ulala

    ulala New Member

    When I was young I always thought my "growing pains" were excessive, but what does a kid know. I'm going to send this to my mother!

    I definitely have this. I wonder if it's magnesium related or genetic. Maybe we're genetically low in magnesium? We never would have known to take magnesium, or anything else when we were growing up.

    Thanks again!
  11. dannybex

    dannybex Member

    Sandy Simmons at the ctds site said that even though all the doctors told her her problems were genetic, they all resolved when she changed her diet to include more magnesium, vitamin k, and hyaluronic-rich foods and broths.

    "Genetic" in some cases may mean that one has the same exact diet that their parents ate...hence the same problems...

    Highly recommend her site.


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