New book!

 

New from the creator of this website -

a fully referenced, evidenced based book covering all aspects of hypermobile Ehlers-Danlos syndrome, and hypermobility spectrum disorder; previously known as EDS-H & JHS.

 

As some of you may be aware, publication of this much anticipated book was delayed slightly whilst the EDS medical and patient community awaited the formal outcome of the recent EDS Classification. The content, which reflects the latest information from the International Consortium on Ehlers-Danlos syndrome, has now undergone a full and final review by Dr Alan Hakim, with relevant sections having also been read by experts such as Dr Suranjith Seneviratne, Dr Pradeep Chopra, Professor Shea Paler and Dr Leslie Kavi.  

 

How to purchase:

To find out more, or to purchase, please click here 

Feedback so far:

 

‘I am excited by the book concept - very much needed I think, good quality but accessible info.’

Emma Frith, Clinical Trial Manager, Oxford Brookes

‘Wow this is incredibly helpful. I was diagnosed several years ago and I still didn't know about at least half of this. It explains SO much!’ Expert Patient Reviewer

 

‘Congratulations on writing a very comprehensive overview.’

Dr Lesley Kavi

'You must publish this book Claire and as soon as possible.  Do not let your self doubt stop you. I will be recommending your book to my patients. I think your chapter on mast cell activation syndrome is very good - very well done.' - Dr Seneviratne, Director of the Centre for Mast Cell Disorders, and Consultant in Clinical Immunology and allergy, UCL

 

‘I'd buy the book based only on that exert I’ve read Claire! Put me down for an early signed copy!’

Scott Ponton

 

‘Your wonderful book; it must and will be published. I’ve just read the section explaining dysautonomia and PoTs and it is really good’.

Alan Hakim, Consultant Rheumatologist at the Hypermobility Unit, Hospital of St John and St Elizabeth.

 

‘Thank you so much for working on this! Your website is one of most well put together, websites about EDS and hypermobility that I have found, I very much look forward to reading your book’

Nettie Clouse

'Dear Claire, thank you for your noble initiative of writing this book! Sorry for the delay in answering.' - Dr Marco Castori - Clinical Genetics at the Division of Medical Genetics of the San Camillo-Forlanini Hospital in Rome 

Symptoms Involved in Ehlers-Danlos syndrome hypermobility type & Joint Hypermobility syndrome

IMPORTANT NOTE - PLEASE READ:

You have clicked on an archived link. This page is archived from a previous (old) version of this website. Such pages have been left online for reference purposes, but readers should be aware that some of the content within may no longer represent the respective authors views/opinions or be current in terms of more recent research, understanding or the 2017 EDS International Classification.  

 

It is important to know the many symptoms of Ehlers-Danlos Syndrome hypermobility-type and Joint Hypermobility syndrome, in order to better recognise the underlying cause. It is also important to remember that symptomatic-hypermobile people suffer from various combinations of these symptoms.  A diagnosis of EDS-H / JHS needs to be considered for a patient presenting with troublesome ankle joints, autonomic problems and poor proprioception, just as much as it

does for someone who presents with multiple dislocations, chronic fatigue and bowel problems.  

 

The key is to check whether underlying hypermobility is present and considering whether it may 

link the symptoms.

 

'Mastering the broad spectrum of subtle findings detectable at inspection is crucial for early diagnosis and management of potentially disabling complications.' (Quote relating to EDS-H & JHS: Marco Castori MD, Centre for Medical Genetics, Dept. of Molecular Medicine)

 

'The range of presentations (therefore) varies from the single subluxing or dislocating joint, to multiple joint injuries, weak abdominal and pelvic wall, widespread pain syndromes, to complex systemic cardiovascular, respiratory, and bowel problems.’ (Quote relating to EDS-H & JHS: Dr Alan J Hakim MA FRCP).

 

Primary Symptoms



• Pain and Joint pain: Pain found in EDS-H / JHS is unusual in the medical world because it is one of the few conditions causing both chronic and acute pain and because (except after dislocations etc.) it is notably pain without the inflammatory component of other rheumatological diseases. 'Joint Hypermobility Syndrome is the most frequent cause of musculo-skeletal pain in any rheumatological clinic.' (Quote: Dr Jamie F Bravo MD Prof. of Medicine)In many cases pain, will not go away completely even with the normal pain management strategy of anti-inflammatory medication (NSAIDs), rest, ice, and elevation (for more detailed information, please see the 'Pain and EDS-H / JHS' section, in 'Additional Information' on the main menu)

 

Poor proprioception: Problems with the body’s central nervous system in understanding theposition and movement of the body's joints and limbs. This may be so slight that the person with EDS-H /JHS doesn't even realise, but the slight or momentary lack in proprioceptive feedback can trigger subluxations / dislocations. If more obviously affected the person may also have been labeled as clumsy. (Please see the 'Proprioception and EDS-H /JHS' section in 'Additional Information' on the main menu)

 

• Muscle stiffness and tightness: Caused by the extra work muscles have to do to try and keep a hypermobile person's joints stable, and the muscle imbalances within joints. (Please see 'Pain and EDS-H /JHS' section under 'Additional Information' on the main menu).

 

• Popping, or clicking of joints with movement: Most of the popping or cracking noises experienced by those with hypermobile joints are due to cavitation (the formation of an empty space within body tissue). As a joint is stretched the volume of the joint space increases slightly as the joint surfaces separate which causes a drop in joint pressure resulting in the formation of a small bubble of CO2. Studies show that this is usually harmless to the joint. However, repeated joint popping, clicking, grinding or crunching can also be caused by conditions that represent more serious joint status, such as crepitus / degenerated cartilage from osteoarthritis, especially if pain is involved.

 

Frequent dislocations or subluxations (a partial dislocation)  Joint Dislocation occurs when the normal alignment of a joint is dislocated, or separated abnormally. Ligaments bind the bones in a joint together. Weak or overly stretched joint ligaments, such as those often found in people with EDS-H / JHS, can lead to dislocation or subluxation of the joint with or without trauma, and sometimes spontaneously. Subluxation means an incomplete or partial dislocation of a joint. A dislocated joint will need to be moved back into place.  Some people with EDS-H & JHS may be able to put their joints back into place themselves, some experience profound dislocations and are unable to do so, instead requiring frequent medical intervention. General recommendation would be that you should always seek medical attention if you have dislocated a joint. 

Common dislocations and subluxations include, knee dislocations, shoulder dislocations, finger dislocations and so called 'pulled-elbow' which is actually a subluxation of the radial head from the annular ligament. Areas, which many clinicians would think were 'very unlikely' or 'impossible' to dislocate, can also be affected in those with EDS-H & JHS, for example, wrists that dislocate or ribs which can move out of position from front to back as well as inwards and outwards.


Hyperextension of joints  When muscles and ligaments are lax, a person's joints can extend into a range which is greater than considered ‘normal’. If a joint is overstretched or "bent backwards" because of exaggerated extension motion, this is classed as hyperextension (see pictures in ‘Diagnosis by Clinical Assessment’ under the ‘Helpful Information’ section of the main menu). Although hyperextension in many EDS-H & JHS patients is 'normal', allowing your joints to be used whilst in hyperextension can put a lot of stress on the ligaments of the joint. Some experts believe that patients should refrain from allowing their joints to extend beyond what is classed as normal within the general population, others argue that it is more effective to encourage a hypermobile patient to exercise (using carefully prescribed exercises) into their natural 'extended' range, in order to protect that extra range in day-to-day living (please see 'Physiotherapy and EDS-H /JHS' in the 'Additional Information section of the main menu for more information).


Sprains, turning of ankles  Ankle instability arises when an injured ligament fails to regain its structural elasticity, or has too much anatomic elasticity due to defective collagen (as in hypermobility), causing the ankle joints to become hypermobile and move in atypical ways. Instability creates a sensation of "giving-way" Chronic low-grade swelling and pain may also be noted. The frequency of future ankle sprains is greatly increased because ankle instability usually involves long-term weakening of the joints. Long term ankle pain/weakness can alter a person's gait, which can go on to adversely affect joints of the knees, hips and lower back.

 

• History of other recurrent musculo-skeletal problems: Examples include tendinitis (e.g. tennis elbow, achilles tendonitis) ̧ bursitis, recurrent sport injuries (e.g. ruptured tendons, ruptured ligaments or ruptured muscles), trigger finger.


Secondary Symptoms

 

• Dysautonomia (Autonomic problems):  Many EDS-H /JHS patients also suffer from dysfunction of the autonomic nervous system. The autonomic nervous system is the body’s involuntary nervous system, controlling several basic bodily functions. These include heart rate, body temperature, breathing rate, blood pressure, digestion, and the function of the bowel and bladder. Autonomic Dysfunction can cause many symptoms, a few of which are lightheadedness, dizziness, fainting or near fainting, increased or rapid heartbeat. (Please see the 'Dysautonomia/POTS and EDS-H /JHS' section under the 'Additional Information' Section of the main menu)

 

• Postural Orthostatic Tachycardia Syndrome (POTS): POTs is a subset of dysautonomia, linked to changes in blood pressure and heart rate when changing position e.g. from lying down to standing, or sitting down to standing. Around 60-70% of people with EDS-H /JHS suffer POTS related symptoms; these can include feeling lightheaded and/or dizziness (some will actually faint), feeling suddenly drained or weak, experiencing blurry vision, nausea, finding it difficult to think straight. Sometimes POTs can also trigger symptoms such as cramps, constipation or a feeling of bloatedness. (Please see 'Dysautonomia and EDS-H /JHS' section under 'Additional Information' in the main menu, for more information on this frequently seen set of secondary symptoms)

 

Gastrointestinal problems: Laxity of the connective tissue in the stomach and colon can be responsible for many abdominal complaints such as irritable bowl syndrome, diarrhea, constipation, reflux, gas and recurring abdominal pain, sensitivity to certain foods. malabsorbtion and gastroparesis are also frequently seen in those with EDS-H /JHS. (Please see 'The Digestive System and EDS-H /JHS' page, under 'Additional Information' section of this site).

 

• Hiatial Hernia: Often overlooked by medical practitioners, hiatial hernias are seen at a higher frequency among patients with JHS / EDS-H and should be considered in hypermobile patients who suffer from persistant heartburn.


• Obstetrics and gynaecology problems:  Irregular periods, heavy and, or painful periods, increased joint pain before or during periods, or during pregnancy, premature or rapid labour, pelvic floor instability leading to uterine prolapse and/or incontinence especially after child birth. (Please see the individual sections on  Hormones / Urinary / Gynaecological pages, under 'Additional Information' section of this site).


• Cardiovascular problems: Irregular heartbeat, palpitations, chest pain, poor circulation due to stretchy veins. Some people have blood vessels that are stretchy (due to defective collagen), which allow blood to pool in the abdomen, legs and feet, thus triggering autonomic problems such as Postural Orthostatic Tachycardia syndrome or symptoms of Reynaud's Syndrome.


Skin Involvement: Stretch marks, often appear between the ages of 11 and 13 years when adolescent growth. The are commonly occur on thighs, loins, breasts, and occasionally shoulders and knees. Some also describe varicose veins. Sometimes slow wound healing may be apparent, easy bruising and abnormal scaring are also often reported.  (please also see the 'Diagnosis by Clinical Assessment page, under the 'EDS-H /JHS Information' section of this site)

 

• Anxiety disorders: Once thought of as a purely a psychological response to the frequently debilitating nature of the condition itself,  research now shows that this is not the whole picture. Physio-logical causes have now been shown to contribute to anxiety disorders in those with EDS-H /JHS (for further information please see the 'Anxiety and EDS-H /JHS' page, under the 'Additional Information' section of this site)

 

• Flat feet or fallen arches (Pes plenus) and / or early hallux valgus (bunion) deformity: In a hypermobile foot there is often excess motion cause by pronation. Pes plenus occurs when the strong ligaments that normally support the arch of the foot are overly stretchy and unsupportive, allowing the arches to collapse under the body's weight and the feet pronate inwards. Pes plenus may not be immediately apparent in the non-weight bearing hypermobile patient. The patient should therefore be observed when upright and when walking. Many people with EDS-H /JHS use custom-made orthotic insoles to help correct this imbalance. It is also common to bunion abnormalities and sometimes metatarsal subluxation in hypermobile feet. Foot pronation can cause the first metatarsal bone (in the big toe) to be unstable and move upwards and turn inwards, leading to abnormal tension being applied by the adductor hallicus muscle and a bunion being formed.

 

• Chronic neck strain: Nearly everyone with EDS-H / JHS is affected by chronic neck strain according to Dr Alan Pocinki MD. He suggests that the two main reasons for this are: ‘The ligaments that are supposed to support the head are too loose and therefore cannot do their job well. The muscles of the neck are forced to do more of the work of supporting the head than they are meant to do, so they become strained. Second, most HMS (EDS-H /JHS) patients have shoulders that are too loose, that is the “ball” of the upper arm is not held tightly in the “socket” of the shoulder. Because of the weakness of the shoulders, almost any activity that uses the arm, including reaching, pushing, pulling, and carrying, pulls not only on the shoulder but also on the neck.’ He goes on to explain that because of these issues the neck muscles are under constant strain, and ‘…what little healing may occur overnight is promptly undone the next day.’ He says he finds that that this process occurs so gradually that many people with HMS (EDS-H /JHS) do not even notice it, and, when asked, they may say, “My neck is fine,” when in fact their necks are a mass of knotted soft tissue, soft tissue that does not feel soft at all!

 

• Lower back pain:  When the ligaments that normally support the spine and pelvis, and keep them stable, are hypermobile they are too loose and put muscles under extra strain in their effort to try and support the upper body. When the hips are hypermobile the lower back can be put under strain in an attempt to stabilise the pelvis.

 

Eyesight:  Myopia (short-sightedness) and blue(ish) sclerae are more common in those with

EDS-H /JHS (please see the 'Ocular and Dental Features' page, under the 'Helpful Information' section of this site for more information)

 

Dental problems: higher risk of gum disease, cavities and tooth fracture. Crowded teeth, high narrow palate, Temporomandibula Joint (TMJ) subluxation / dislocation. Pain in the TMJ is also common.  (please also see  'Ocular and Dental Features' page, under the 'Helpful Information' section of this site) 

 

• Osteopenia:  Low bone density.  Several studies show that women with EDS-H have lower bone density than controls (even in young adulthood).  Hypermobility also increases the risk for low bone mass. The cause is likely to involve a number of factors, including an inheritance of a hereditary defect of the connective tissue, which may lead to weakened bone structure, made worse by immobility due to injury or time spent recovering indoors or in hospital, and / or reduced exercise due to pain and or fatigue.  Those with EDS-H /JHS may wish to discuss the prevention of secondary complications (such as osteopenia in EDS-H /JHS) with their medical adviser - for example, supplementing calcium and vitamin D and carrying out low-impact weight-bearing exercise to maximize bone density.

 

Local anaesthetics: : Patients with Ehlers-Danlos Syndrome Hypermobile-Type and Joint Hypermobility Syndrome frequently experience problems in obtain sufficient relief from anaesthetic and painkillers. Professor Grahame CBE, MD, FRCP, FACP writes: ‘patients with EDS / JHS do not appear to experience the full anaesthetic affect of lignocaine injections when these are given for dental purposes, minor surgery, or for epidural anaesthesia’. At the moment the most reasonable explanation appears to be that the local anaesthetic solution diffuses away more rapidly from the microenvironment of the site of the injection because of the lax nature of the connective tissues. The same problem is reported by many in relation to topical analgesics such as EMLA cream and alternatives may need to be tried. Many also find that painkillers, which would normally be expected to effectively stop pain, do not work well in people with EDS-H /JHS. A patient should make their pain specialist or anaethetist aware of any problems they may have had in the past.

 

• Insomnia: Studies such as 'Prevalence of sleep disorders in Ehlers-Danlos syndrome', published in 2012 conclude, that Insomnia can be listed as a criteria symptom amongst patients with hypermobility type EDS. The most frequent complaints are the difficulties of maintaining sleep. Pain and anxiety may influence those sleep disturbance. Restless leg syndrome seems to be more frequent than obstructive sleep apnia syndrome.

 

• Scoliosis (Curvature of the spine):  Idiopathic scoliosis (scoliosis of unknown cause) is the most common spinal abnormality in children in the general population, but sometimes scoliosis is one part of a syndrome, such as Marfan syndrome or Ehlers-Danlos Syndrome, both of which are inherited connective tissue disorders. This is known as syndromic scoliosis.Scoliosis typically occurs after the age of 10. Girls are more likely than boys to have scoliosis.

 

• Osteo-arthritis:  Osteoarthritis is reported to occur more often in patients with EDS/JHS and Marfan syndrome. Recently, however, one study showed that hypermobility was not commonly associated with osteoarthritis in a population of postmenopausal women. Further clarification is therefore required to establish whether joint hypermobility is a significant risk factor in the development of osteoarthritis. Degenerative joint disease does, however, occur in those with EDS-H /JHS, at a younger age than in the general population, possibly because of chronic joint instability which results in increased stress on the joints. Osteoarthritic pain develops in later life (again at an earlier age than in the general population) and typically presents as stiffness and aching pain in the joints. Osteoarthritic pain is often made worse by resistance and/or highly repetitive activity.

 

• Dural Ectasia: Often detected when reviewing spinal MRI’s, Dural ectasia is a widening or ballooning of the dural sac surrounding the spinal cord. It usually occurs in the lumbosacral region, as this is where the cerebrospinal fluid pressure is greatest, but any area of the spinal canal can be affected.Dural Ectasia is a common finding in Marfan syndrome, occurring in 63–92% of people with the syndrome. Dural ectasia also occurs in Ehlers-Danlos Syndrome, neurofibromatosis type I and ankylosing spondylitis. In many people Dural Ectasia causes no symptoms, but for those who do experience symptoms, the most common are headaches, weakness, numbness above and below the involved limb, leg pain. Sometimes rectal and genital pain, bowel and bladder dysfunction, urinary retention or even incontinence may be experienced. Symptoms are usually, but not always relieved when a person lies down.

 

Comorbidities of Ehlers-Danlos Syndrome Hypermobility Type and Joint Hypermobility Syndrome

 

Put simply, comorbidities are overlapping conditions - sometimes the links have been established, but, as yet, are under recognised, sometimes they are things that are seen more times than can be coincidental, but, as yet, there has not been enough funding or documented research to categorically prove the link.  Sometimes they can be condition(s) that exist simultaneously, but independently, with another condition.

 

Below are some of the comorbidities frequently associated with Ehlers-Danlos Hypermobility Syndrome:

 

• Fibromyalgia:   There has been a great deal of debate as to whether Fibromyalgia is an emotional disorder or a physical disease affecting the muscles. In an article written for the Hypermobility Syndromes Association, Professor Rodney Grahame states ‘the most commonly held view is that Fibromyalgia is a form of the body's distress signal that can emerge in people who have several different and unrelated conditions’.Several studies suggest that there is a strong association between joint hypermobility and fibromyalgia; research is trying to establish whether joint hypermobility may play a part in the mechanism that causes pain in fibromyalgia. (see ‘EDS-H / JHS and Fibromyalgia’ under ‘Additional Information’  in the main menu).

 

• Raynaud's Syndrome and Chilblains: Raynaud Syndrome occurs at an increased frequency in EDS-H/JHS, which may be another manifestation of the autonomic dysfunction from which many with EDS-H/JHs suffer. The blood supply to certain parts of the body, usually the fingers and toes, is affected, causing them to feel cold and loose colour. In the general population Raynaud’s is usually triggered in cold temperatures, or by anxiety or stress, but various conditions of the blood vessels, joints, muscles, nerves or skin can cause secondary Raynaud's, for example, scleroderma, rheumatoid arthritis, multiple sclerosis, systemic lupus erythematosus, and connective tissue' disorders such as Ehlers-Danlos Syndrome or Marfan Syndrome.Raynaud’s sufferers are also prone to chilblains, which develop on the fingers and toes. These are seen as small, itchy and painful reddish blue swellings, which develop when the skin gets cold, causing the tiny blood vessels to constrict severely.

 

• (CRPS) Complex Regional Pain Syndrome:  The Mayo Foundation for Medical Education and Research write: ‘Complex regional pain syndrome is an uncommon form of chronic pain that usually affects an arm or leg where the pain is out of proportion to the severity of the initial injury, if any. Pain starts in one limb, but can later present in other limbs, the spine, abdomen and perineum. Constant pain is often felt, even at rest with intermittent exacerbations. Severe pain - burning, tearing, shooting is also described. Temperature and color changes to the limb are common. Edema (swelling due to fluid in the tissues) may be experienced. The area of pain is normally larger than the primary injury. Patients often have a limited range of motion and describe pain on light touch and increased pain to mildly painful stimulus. Sometimes there may also be trophic changes to the limb e.g. nail growth changes (faster, distorted), hair growth changes (coarser, darker, rapid growth, hair falling), skin changes (atrophy of skin) or skin lesions’. Initially the nerves in those with CRPS are affected, but very quickly the problem moves from the nerves into the surrounding Glia Cells, meaning that nerve desensitisation medications are often not effective . If the initial, more conservative forms of treatment, such as physiotherapy and desensitisation techniques do not help, then treatment, which can reach the Glia cells, may need to be considered. The Glia cells constitute 70-80% of all cells in the central nervous system and under normal conditions also form part of the immune system. When these Glia Cells are activated in CRPS they release inflammatory chemicals in the affected limb. Ehlers-Danlos Hypermobility Syndrome is thought to contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, via increased fragility of nerve connective tissue and / or, via nerve trauma from more frequent injuries or surgeries.

 

Initially the nerves in those with CRPS are affected, but very quickly the problem moves from the nerves into the surrounding Glia Cells, meaning that nerve desensitisation medications are often not effective .  If the initial, more conservative forms of treatment, such as physiotherapy and desensitisation techniques do not help, then treatment, which can reach the Glia cells, may need to be considered.  The Glia cells constitute 70-80% of all cells in the central nervous system and under normal conditions also form part of the immune system.  When these Glia Cells are activated in CRPS they release inflammatory chemicals in the affected limb. Ehlers-Danlos Hypermobility Syndrome is thought to contribute to the development of CRPS in one or more of the following ways: via stretch injury to nerves traversing hypermobile joints, via increased fragility of nerve connective tissue and / or, via nerve trauma from more frequent injuries or surgeries.

 

• Neuropathy:  Some people with hypermobility also develop neuropathic pain, which may be felt as burning, stinging, tingling, shooting, numbing, etc. Sometimes such pain is caused by disc problems, but often it is quite localized or does not follow the usual patterns of pinched nerves. Conventional nerve testing usually is normal, so these symptoms may be attributed to psychological rather than physical causes. This type of pain also can be particularly difficult to treat  (see 'Pain and EDHS' page, under the 'Additional Information' section of this site).

 

• Peroneal Nerve Neuropathy:  Lack of sensation in the top-of-the-foot, or foot and ankle, and motor weakness/pain, are the most common characteristics of dysfunction of the common peroneal nerve. The peroneal nerve branches off the sciatic nerve just behind the knee, and goes down the outside of the front of the leg to the top of the foot. It is responsible for supplying sensation over the outside front of the calf as well as most of the top of the foot and toes. Thought to be caused by excessive pressure of tissues surrounding the outer, lower part of the knee/upper calf, how symptoms present themselves and the severity of the symptoms, varies depending on which of its three branches are compressed and at what point. This condition is commonly seen in people who have had knee dislocations, but can also follow surgery or trauma in this area of the body.

 

• Thorasic Outlet Syndrome (TOS):  Compression is the most common cause of Thoracic Outlet Syndrome. Compression can be caused by enlarged muscle/scar tissue, abnormal muscles in the neck, or an extra rib (known as a cervical rib), or because of a narrowing of the thoracic outlet space between the clavicle and chest wall or in the region where the nerves and blood vessels pass under muscles as they cross the shoulder.

Alternatively however, Hypermobility (looseness) of the scapula (shoulder blade) or glenohumeral joint (shoulder instability) can also create tension or traction on the neurovascular structures in the thoracic outlet region and lead to ‘thoracic outlet-type’ symptoms. Body position, poor posture and carrying out certain overhead activities can also play a role in causing or contributing symptoms. TOS can vary widely in the range of symptoms it can cause. Some patients have minimal discomfort or loss of function, others may be more symptomatic. Similarly, the diagnosis can at times be relatively straightforward but is often difficult and elusive.

 

Symptoms include pain along the top of the clavicle and shoulder, with pain sometimes spreading along the inside edge of the arm. Occasionally pain spreads into the hand, mostly into the ring and pinky fingers. Numbness and tingling, called paraesthesia, may accompany the pain, especially in the early hours of the morning before it's time to wake up. Symptoms tend to get worse when driving, lifting, carrying, and writing. The arms may also feel tired when held overhead, as when using a blow dryer. It may be harder to hold and grip things, and the hand may feel clumsy.

There are two other forms of TOS, related to compression of the vein or artery, but these are far less common, accounting for only around 5% of cases.

 

When Doctors are unable to find an obvious cause of ‘TOS-Type’ symptoms on the usual scans, the symptoms are sometimes referred to as ‘disputed thoracic outlet syndrome’. Disputed Thoracic Outlet syndrome usually features:Pain, paresthesia and other subjective discomforts exist withoutreadily affirmable weakness, atrophy, or objective findingsIt is usually encountered in young or middle-aged, healthy, active adults (more women experience symptoms than men). Symptoms often worsened by arm elevation. Acceptance of this group as a diagnostic entity is not universal; critics and proponents are both impassioned in their criticism or support.

 

• Asthma: Specialists hypothesize that some forms of asthma may be caused by a genetic connective tissue defect. A recent study in the relationship between genes and asthma states: 'Our study supports the theory that asthma is not just a single disease, but a complex of several sub-types that should be genetically mapped and understood individually if we are to prevent and treat the disease properly in future', shows that there is much research to be done in this area.  Changes in the mechanical properties of the bronchial airways and lung parenchyma may underlie the increased tendency of the airways to collapse in asthmatic children.  EDs-H/JHS may lead to persistent childhood wheezing by causing airway collapse through a connective tissue defect that affects the structure of the airways. 

 

• Deviated Nasal Septum:  The nasal septum is made of cartilage (composed of collagen) and divides the two nostrils of the nose. Deviated septum means that the septum is off centre enough to appear visibly crooked and/or make breathing difficult. The main symptom is nasal congestion, which is chronic and usually noticeable more on one side of the nose than the other. People with a deviated septum may snore or suffer from sleep apnea or sinus infections. Other symptoms sometimes noted are frequent unexplained nosebleeds, facial pain in the area of the nose, headaches and postnasal drip. A deviated nasal septum may be present at birth, may occur as a part of aging, or as a result of trauma to the nose. It has a significant appearance as a family trait, and with genetic conditions such as Ehlers-Danlos syndrome, Marfan syndrome and Homocystinuria.

 

• Ganglion Cysts:  A ganglion cyst is created when there is a weakness in the connective tissue (fascia) over the tendon sheaths, that allows the sheath to bulge out  and fill with synovial fluid, which may cause pain and/or problems with mobility in the joint (often found in the wrists).  Baker's Cysts (behind the knee) are also associated with hypemobility, especially in childhood.

 

 

• Growing pains :  Benign nocturnal leg pains, or ‘growing pains’, are a common pain syndrome of childhood and have been linked to underlying joint hypermobility in some children. Researchers postulate that unusual or excessive exercise leads to minor injury or repetitive strain to musculotendinous or ligamentous structures in the lower limbs, which are noticed when children are at rest in the evenings.  

 

• Multiple Sclerosis(MS), or 'MS like' symptoms:    Studies such as 'Ehlers-Danlos Syndrome and Multiple Sclerosis: a possible association, by Vilisaar, Harikrishnan, M. Suri and Constantinescu indicate that, in the Multiple Sclerosis population, there exists over 10% more Ehlers-Danlos patients than in the normal population. This percentage is even higher if statistics relating to the prevalence of EDS in the population is based on US figures rather than the UK's figures. Studies are indicating a form of external communicating hydrocephalus in the Ehlers-Danlos population, and the hypothesis is that the same type of hydrocephalus may occur in the Multiple Sclerosis population.

 

• Chronic Fatigue Syndrome (CFS) and Myalgic Encephalomyelitis (ME) Symptoms: 

'EDS Support UK explain as follows:  It is becoming apparent that some cases, previously diagnosed as ME / CFS, may instead be symptoms of the chronic fatigue caused by Dysautonomia and Postural Orthostatic Tachycardia Syndrome, resulting from undiagnosed Ehlers-Danlos Syndrome. Some of the 'Fibromyalgia type symptoms' experienced by many ME / CFS sufferers could actually be a symptom of Ehlers-Danlos Syndrome (EDS).'

 

It is possible, but as yet unproven, that the longstanding argument within the ME / CFS community regarding the benefits, or harm, caused to patient's health, by following a graded exercise plan, could exist because some of those with ME / CFS type symptoms, which do improve through graded exercise, are not actually suffering from ME or CFS at all; they may actually be suffering from Ehlers-Danlos Syndrome & Postural Orthostatic Tachycardia Syndrome (POTS) , but have been misdiagnosed.  

 

Patients who truly have Myalgic Encephalomyelitis (ME) do not benefit from (and could be harmed by) inappropriate exercise.  Exercise therapies can leave ME patients far more severely ill than they were before and sometimes in need of emergency care.  ME patients that are able to rest adequately in the early stages of the illness have the best prognosis. ME patients must strictly avoid overexertion to have any quality of life.

 

Patients with fatigue caused by  EDS & POTS can find symptoms improve through graded exercise, which develops muscle power to compensate for defective collagen and thereby improves cardiovascular function.

 

It seems important  that GPs are alerted to simple protocols for testing all patients presenting with chronic fatigue type symptoms, for positional blood pressure differences (which may indicate Postural Orthostatic Tachycardia Syndrome) and for checking joint hypermobility on the Beighton Score.   

 

• Allergies and Mast Cell abnormalities:  Studies carried out by Dr Claire Francamano and others, report that patients with EDS have a high prevalence of food allergies when compared with the general population, and a significantly higher incidence of gastrointestinal manifestations, in the cohort studied, when compared with the general population. The presence of food allergies also seems to correlate with gastrointestinal dysfunction in some patients. Of the patients who reported constipation, irritable bowel syndrome, gastroesophageal reflux disease, and/or chronic abdominal pain, many also reported having a food allergy (40%, 42%, 17%, and 20%, respectively).

 

Mast cells are located in connective tissue, including the skin, the linings of the stomach and intestine, and other sites. They play an important role in helping defend these tissues from disease. By releasing chemical "alarms" such as histamine, mast cells attract other key players of the immune defense system to areas of the body where they are needed.   Mast cells seem to have other roles as well. They gather together around wounds, and may play a part in wound healing.  For example, the typical itching felt around a healing scab may be caused by histamine released by mast cells. Researchers also think mast cells may have a role in the growth of blood vessels.

 

Some practitioners believe that collagen abnormalities, in those with Ehlers-Danlos Syndrome, may cause mucosal lesions, altering tissue integrity and increasing the chance of larger proteins crossing the mucosal barrier (the gastric lining / mucos coating which stops acid from leaking out) and creating an immunogenic response - this is, as yet, unproven and more research needs to be carried out.  Common symptoms include:  Eyes that feel gritty, sore, watery, or difficulty focusing.  A burning sensation in the mouth, dizziness, palpitations, pre-syncope (i.e. dizzy or almost fainting) intestinal pain in the stomach, bladder pain Chronic fatigue, • feeling cold (common), feeling hot, unexplained sweats,  weight gain • Itchiness that comes and goes, • unprovoked / unpredictable rashes, sores and poor wound healing.

 

Multiple studies have correlated eosinophilic gastrointestinal disorder and allergic responses (i.e. when people with Mast Cell Activation Disorder were tested, it was found that when their bodies encountered allergens, their eosinophils white blood cells multiplied in abnormal amounts and instead of fighting the harmful allergy they did the opposite, causing inflammation and tissue damage instead.  It was noted that this response along with the classic mast cell tissue degranulation found, produced gastrointestinal disorders similar to those seen in some EDS patients. Better understanding the mechanisms associated with food allergies in patients with EDS may aid in development of effective treatments.

 

• Migraines & neck strain:   People with lax joints are predisposed to many different kinds of headaches. Migraine headaches are very common, in part because many migraines are triggered by fluctuations in hormone levels or blood pressure, which can be increased by autonomic problems. Headaches from chronic neck strain are also very common and can often turn into migraines. In addition, severe autonomic problems can cause a dehydration or “hangover”-like headache, possibly related to inadequate blood flow. Uncommonly, looseness of the muscles that control the eyes can cause difficulty focusing and eye strain headaches. Temporomadibular Joint problems can also cause headache.

 

• Chiari Malformations:   (CMs) Structural defects in the cerebellum, the part of the brain that controls balance. Normally the cerebellum and parts of the brain stem sit in an indented space at the lower rear of the skull, above the foramen magnum (a funnel-like opening to the spinal canal). When part of the cerebellum is located below the foramen magnum, it is called a Chiari malformation. CMs can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired co-ordination and Cranial Cervical Instability.  Researchers have found that some individuals with Chiari Type 1 Malformation (CM1) also have EDS (typically Hypermobility Type) - this link is more widely recognised in the United States.

 

• Tethered Cord:  The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end, or some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated.

 

 

Further research is now required to improve the recognition and understanding of the global aspects of EDS-H / JHS and it’s co-morbidities to gain an understanding of how the lives of those with these conditions are affected. Building on these results may enlighten prevention and treatment programs for both children and adults.

                                                                                                           by Claire Smith edhs.info

 

 

References:  For references and information sources used within this site, please see 'References', under 'Resources and Links' on the main menu.

 

 

 

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The owner of this site is aware that this page is out of the recent changes in terminology and criteria resulting from the March 2017 EDS Classification.  In light of the changes, the content on this website will be updated as soon as is possible.

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