Joint Hypermobility Syndrome: What Is It and How To Deal With It?

Joint hypermobility syndrome is a rare and often misunderstood disorder. It involves joints that are much more flexible than what is considered normal, and this movement is accompanied by pain.
Joint Hypermobility Syndrome: What Is It and How To Deal With It?
Maryel Alvarado Nieto

Written and verified by the doctor Maryel Alvarado Nieto.

Last update: 03 November, 2022

The concept of “joint hypermobility” refers to the condition in which the ranges of motion of the joints are wider than normal, taking into account the age and gender of the person. For its part, joint hypermobility syndrome (JHS) constitutes a disorder in which, in addition to showing increased joint flexibility, other symptoms appear, especially pain.

These manifestations are debilitating over time, affecting a person’s quality of life.

It’s surprising to note that the diagnosis of JHS is often late. In fact, some authors claim that it’s delayed by an average of six and a half years. Apparently, this is due to its low frequency.

Similarly, it’s not possible to evidence the type of lesion that’s indicative of JHS with conventional exploratory methods. This makes timely diagnosis more difficult.

What does it consist of, and why does it occur?

The mechanisms involved in the origin of joint hypermobility syndrome are partly unknown. However, there are theories that associate JHS with alterations in some components of connective tissue.

This suspicion is based on the fact that connective tissue is present throughout the body. Also, this would explain both the great variability of related symptoms and the diversity of organs that are affected.

There seems to be a hereditary component of JHS, as an autosomal dominant pattern is observed. This means that a child of a person with the disorder has a 50% risk of having it.

The genetics of JHS

Alterations in type III collagen fibers have been found in patients with joint hypermobility syndrome. This causes these fibers to appear thin in electron microscopy compared to those of the general population.

The structural modification of collagen generates weakness in the tissues, triggering the great laxity of the joint ranges of motion. Likewise, this tissue weakness is believed to be responsible for the other symptoms observed in patients with JHS.

Not only has it been possible to recognize the mutation in the gene encoding collagen, but an alteration in the tenascin-X glycoprotein gene has also been found. However, this is only present in 5 to 10 % of patients, so a normal genetic study still can’t rule out JHS.

joint hypermobility syndrome and DNA
A genetic component of JHS may exist, but does not always explain 100 % of cases.

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The risk factors for JHS

The prevalence of joint hypermobility syndrome varies according to the literature, estimated at 1 to 5 persons per 10,000 population. However, it’s more common in women.

Similarly, it’s more frequent in Asians and people of African descent than in Caucasians. In turn, the prevalence seems to decrease with age.

Some of the associated risk factors include the following:

Symptoms associated with joint hypermobility syndrome

Most patients with JHS manifest joint pain (arthralgia), which starts intermittently until it becomes chronic pain. This causes fear of mobilizing the joint (kinesiophobia). However, immobility causes atrophy of the musculature, making the joint even more unstable.

It’s common for people who suffer from constant pain to develop chronic fatigue syndrome.

In addition to arthralgia, some joint symptoms include stiffness, crunching, and a feeling of instability. It’s common for the pain to worsen with repetitive movements and improve with rest.

The most commonly affected joints are the shoulders, knees, neck, and ankles. On the other hand, extra-articular symptoms described include the following:

  • Headaches
  • Sleep disorders
  • Muscle cramps
  • Tachycardia and palpitations
  • Ocular dryness (xerophthalmia)
  • Capillary fragility with hematomas and ecchymosis
  • Emotional disorders, such as depression, anxiety, and panic attack
  • Gastrointestinal disorders, such as recurrent abdominal pain and an irritable bowel

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How can it be diagnosed?

Joint hypermobility syndrome is difficult to diagnose, as there are no complementary tests available to confirm it. The suspicion is entirely clinical, and therefore, the diagnosis must be made by ruling out other conditions.

There are various criteria useful to the physician. The most accepted at present is the one described by Brighton.

Search for other alterations and complications

A benign component is attributed to HAS in order to differentiate it from other connective tissue alterations considered more serious. However, the symptomatology it produces can be devastating due to the decrease in quality of life.

Similarly, a higher frequency of other conditions has been found in patients with JHS, which makes it necessary to rule out such diseases, as well:

  • Arthrosis
  • Fibromyalgia
  • Aortic dilatation
  • Mitral valve prolapse
  • Congenital hip dysplasia

Connective tissue involvement makes the patient more at risk of developing dislocations and tendonitis and more susceptible to osteopenia and fractures. Similarly, due to increased weakness of the abdominal wall and pelvic floor, hernias and prolapse of the uterus and rectum can also occur.

Differential diagnoses

Since JHS is a diagnosis of exclusion, it’s also important to rule out other conditions, such as:

  • Ehlers-Danlos syndrome
  • Osteogenesis imperfecta
  • Marfan syndrome
A man with a hernia
Hernias are more frequent in patients with joint hypermobility syndrome since the abdominal wall is laxer.

How can joint hypermobility syndrome be treated?

There’s no specific treatment to manage HAS, so the drugs used try to control the symptoms in the acute phases. For this, analgesics such as paracetamol are proposed (and must always be used with a prescription).

Anti-inflammatory drugs are not considered the first choice due to their adverse effects. Likewise, opioids are discouraged in most patients.

Pain perception has an emotional component that is difficult to treat. This makes it feasible to prescribe antidepressants and some anticonvulsants. The use of these drugs should not be prolonged for too long.

Vitamins and joint hypermobility syndrome

Some studies suggest prescribing a vitamin C supplement as an adjuvant in collagen synthesis. However, as for collagen consumption, there’s no evidence that is truly useful.

In cases of osteopenia, calcium and vitamin D should be prescribed; if necessary, even bisphosphonates may be prescribed. It’s advisable to treat any underlying condition and to maintain a healthy body weight.

Re-education of the patient with JHS

Finally, it’s important to emphasize that, although there’s no specific treatment for this treatment, physical therapy is essential in these patients. Gradual physical conditioning makes it possible to strengthen the musculature and improve posture, but exercise should be regular and low-impact.

The aim is to achieve coordinated joint movements that reduce microtrauma. Therefore, physiotherapy is essential.

Likewise, brisk walking for 30 minutes a day on flat ground while wearing appropriate footwear is highly recommended. Some authors recommend the use of support devices, such as insoles, knee pads, and lumbar belts.

Cognitive-behavioral therapy and relaxation techniques have also been shown to be useful in the management of this disorder.

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