If you have recently been diagnosed with one of the hypermobility syndromes (also known as Heritable Disorders of Connective Tissue), you may have been given our contact details to help you better understand your condition and find ways in which to manage your symptoms. It is likely that you will have many questions ranging from basic concerns about day to day living, to more complex questions about topics such as genetics and pain management. This website has been prepared to answer some of the questions most commonly asked by those who are recently diagnosed.
The HMSA is run by qualified professionals and trained volunteers. Alongside offering support to all those affected by any of the hypermobility syndromes, we provide publications and information / education programmes for schools, colleges, and health professionals. All of the information we produce is evidence-based and accredited by NHS England’s Information Standard, ensuring that both you and those supporting you can have confidence in its accuracy. The HMSA also offers a professional membership scheme for all who work with people affected by these conditions.
The majority of people with hypermobility syndromes are affected mildly and the aim of health and social care professionals, and voluntary organisations working with people with these conditions is to encourage them to overcome obstacles by problem solving and staying physically strong. With the right support most people with a hypermobility syndrome can continue to live a normal life if their condition is well managed.
However some the Heritable Disorders of Connective Tissue are associated with complex and multi-systemic problems. There is also growing awareness that some people with ‘milder’ variants of the hypermobility syndromes have added complications beyond hypermobility and pain, that include autonomic disturbances.
The HMSA provides information on all these conditions through its website, publications, social media groups, local groups, advice line, and education programmes.
What is hypermobility?
Hypermobility is the term used to describe the ability to move joints beyond the normal range of movement. Joint hypermobility is common in the general population. It may be present in just a few joints or it may be widespread. It is most common in childhood and adolescence, in females, and Asian and Afro-Caribbean races. It tends to lessen with age. In many people joint hypermobility is of no medical consequence and commonly does not give rise to symptoms. Hypermobility can even be considered an advantage, for example athletes, gymnasts, dancers and musicians might specifically be selected because of their extra range of movement.
What are the hypermobility syndromes?
For a small percentage of the population, instead of being advantageous, hypermobility may be associated with joint and ligament injuries, pain, fatigue and other symptoms. Hypermobility can also be a sign of a more serious underlying condition, which are often passed down through the generations. These conditions are known as Heritable Disorders of Connective Tissue (HDCT).
When our group of medical advisors use the phrase ‘hypermobility syndromes’ they are referring to the group of HDCT in which symptomatic-hypermobility is now recognised as a common feature. The most common of these is Joint Hypermobility syndrome or Hypermobility Spectrum Disorder (HSD), which used to be thought by many experts as part of the same spectrum as hypermobile Ehlers-Danlos syndrome (hEDS). HDCTs also include other rarer variants of Ehlers-Danlos syndrome, such as the classical (cEDS) and vascular (vEDS) types, Marfan syndrome, and to differing degrees Osteogenesis Imperfecta and Stickler syndrome. It is important to appreciate that each HDCT has its own differing symptoms and complications, as well as also sharing a broader commonality. For instance Marfan syndrome and vascular Ehlers-Danlos syndrome, may have potentially life threatening complications and therefore have very different needs; classical Ehlers-Danlos syndrome has potentially more severe and differing symptoms from the hypermobile EDS; and in Osteogenesis Imperfecta a person is more likely to suffer fractures either spontaneously or after minimal trauma.
What broad commonality of physical symptoms can be found within the hypermobility syndromes?
In HDCTs the body’s connective tissue proteins that give the body its intrinsic toughness are affected. A person’s joints are lax because they have looser and more stretchy connective tissues, particularly their ligaments and tendons (soft tissues). Hypermobile people can easily injure soft tissues around joints because their joints can twist or over extend easily, and may partially dislocate (or ‘sublux’), or in some cases fully dislocate joints. Whilst the majority of hypermobile people recover from an injury (though this may be slower than normal), others only partially recover, or continue to repeatedly injure various parts of their body.
Structural defects in the body’s connective tissue proteins, allow micro-traumas, which are often not visible on tests such as MRIs, to occur repeatedly in the same area of connective tissue without completely healing. Injuries associated with the hypermobility syndromes may cause immediate ‘acute’ pain and can also lead to longer-term ‘persistent pain’, which can be severe and widespread.
The skin and internal organs may also be affected, as connective tissue is found in all areas of the body. For some, this can cause additional problems involving the gastrointestinal system, the autonomic nervous system and problems with bladder function.
The severity of symptoms, the joints that are affected, and the level of pain and fatigue experienced by those with a hypermobility syndrome can vary greatly from day to day. These symptoms can interfere with daily activities of living, schooling or work. The associated pain can become widespread and persistent and might initially be diagnosed as, or confused with, another condition called fibromyalgia.
Severe fatigue that persists, despite rest or a proper nights sleep, is another common symptom. In addition, early muscle fatigue may be caused by muscles having to work hard to stabilise joints. Fatigue in the hypermobility syndromes can also easily be confused with a condition called Chronic Fatigue syndrome, or Myalgic Encephalopathy (ME). It is important that the right diagnosis is made, as the approach to treatment such as physiotherapy, occupational therapy, and pain management may be different.
Throughout this website and incorporated with our publications and literature, we aim to provide advice, support and further information that will help you understand and live well with your hypermobility syndrome.
Dr Alan Hakim, Chief Medical Advisor. Claire Smith, Editor.
HMSA, 49 Greek Street, London, WD1 4EG
Published May 2015. Planned Review Date: Oct.2017
v2 Reviewed March 2017, Planned Review Dates; March 2019