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Joint Hypermobility Syndrome/Ehlers-Danlos


Hypermobility of joints means the joints move farther and more easily than most people’s joints. Hypermobile people can often do tricks that look like contortion and hypermobility is often valued in gymnasts and dancers. Sometimes, these people have chronic joint injuries due to the hypermobility and may even have joint dislocations or popping out of the socket.
Estimates say that up to 10% of the general population may have some degree of hypermobility, with women and children being more affected. Joint hypermobility does not cause any problems in most people, but in some it leads to chronic joint pain and other symptoms, known as Joint Hypermobility Syndrome (JHS)

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The genes we inherit from our parents contain the instruction for building all the proteins of our body. Any abnormality in the genes leads to abnormality in the proteins, which leads to abnormal functioning of the organs that contain the affected protein.
Collagen is a type of protein found throughout the body – in skin, joint ligaments, blood vessels, and many other organs. In JHS there are genetic changes that lead to changes in the structure of the collagen.

Ligaments are tough bands of fibre-like tissue in the body that link two bones together at a joint. When the collagen is abnormal, the ligaments are not as tough and the joint can move further (hypermobility) or more than normal (laxity). The continuous overstretching of the ligaments leads to chronic injury of the joints and instability.

People with JHS often have poor joint and position sense, known as proprioception. This further worsens the hypermobility and joint damage. Other than joints, the abnormal collagen affects a number of organs and organ systems in the body leading to a constellation of symptoms due to the stretchiness and weakness of tissues.

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Chronic joint pain and stiffness: Joints of the neck, shoulders, back, hips, knees, ankles, wrists, and elbows. There is usually no sign of redness or marked swelling and x-rays are normal, hindering diagnosis. Upper back pain and lower back pain are both common.

Mitral valve prolapse and uterine prolapse may occur. Hernias and gastroesophageal reflux disease (GERD) are more common in people with JHS.

Skin bruises may appear without any cause.

Many hypermobile people complain of dry mouth or constant thirst, often with a craving for salty foods.

They are uncomfortable standing for long periods, so avoid lines and like to sit with their feet up.

Many people with JHS also have problems with their autonomic nervous system, the part of the nervous system that regulates circulation, breathing, and digestion. This can lead to symptoms such as ightheadedness, palpitations, and digestive problems. They can often find it difficult to adjust to both cold and warm temperatures. There is an increased incidence of allergies and asthma in people with JHS.

Muscle strains and spasms are common. Any repetitive movement, such as walking, lifting, or carrying can be painful. Simple activites of daily life like standing or sitting, cleaning a kitchen counter or bending down to pick up laundry can be painful.

The people with JHS are more prone to get problems of the spinal column like disc herniation, slippage of vertebra, etc. These cause severe back pain that may radiate to the legs.

They are more prone to get osteoarthritis and earlier than others.

Inflammation of rib cage, chostochondritis may occur leading to severe chest pain. People with JHS may have neuropathic pain, which may be felt as burning, stinging, tingling, shooting and numbing, even without disc herniation Increased incidence of bone thinning – osteoporosis and osteopenia.

Soft tissue problems like synovitis are more common.

Poor joint sense leads some people to have problems with balance and make them bump into things more often.

Other joints can lead to painful conditions like the lower jaw joint, joints of the finger, hands and feet.
People with JHS often struggle with fatigue. They have problem sleeping and may have chronically poor sleep
The chronic pain, delayed diagnosis and fatigue may lead to concurrent depression.
An increased incidence of anxiety problems have been found in people with JHS by some researchers. The genetic link, if any, has not been found yet.
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The Beighton score is used to measure a person’s degree of hypermobility. One point is assigned for the ability to accomplish each of the following movements:

bending your small finger back further than 90 degrees (1 point each side)
bending your thumb forward to touch your forearm (1 point each side)
hyper-extending your elbows and knees, that is bending them beyond a straight line (1 point each joint, each side)
putting your palms flat on the floor without bending your knees (1 point)

The Beighton score and other criteria are used to clinically diagnose JHS. There are no genetic or blood biochemistry tests that can diagnose JHS.

The Revised Diagnostic Criteria for JHS:

Major criteria*

A Beighton score of 4/9 or greater (either currently or historically)
Joint pain for longer than 3 months in four or more joints

A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)
Joint pain in one to three joints or back pain or spondylosis, spondylolysis/spondylolisthesis
Dislocation in more than one joint, or in one joint on more than one occasion
Three or more soft tissue lesions (e.g. epicondylitis, tenosynovitis, bursitis)
Marfan-like habitus (tall, slim, span > height, upper segment:lower segment ratio less than 0.89, abnormally long and slender fingers in comparison to the palm of the hand)
Skin striae, hyperextensibility, thin skin or abnormal scarring
Eye signs: drooping eyelids or myopia or antimongoloid slant
Varicose veins or hernia or uterine/rectal prolapse

Note: The JHS is diagnosed in the presence of 2 major criteria or 1 major and 2 minor criteria or 4 minor criteria. 2 minor criteria will suffice where there is an unequivocally affected first-degree relative. JHS is excluded by presence of Ehlers-Danlos syndromes (other than the EDS hypermobility type formerly EDS III) or Marfan syndrome.

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There is no treatment that can treat the abnormal collagen and the hypermobility.
The mainstay of management of muscle and joint symptoms is to relieve muscle spasms, strengthen the muscles, prevent joint damage and reduce pain both in the short term and long term.
It is often necessary to take medication for pain relief
Various exercise regimes have been found useful, like pilates, customized home exercises, tai-chi, and core-strengthening isometric exercises.
Physical therapy with an experienced physiotherapist is often essential to strengthen the muscles, retrain in proprioception, and regain stability in joints.
Consultations with multiple specialists may be needed to address other associated problems.
Psychological counselling may be required in some people.

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