Hypermobility in Heritable Disorders of Connective Tissue –
An Overview Basic Essentials for medical professionals and members wanting to learn about these conditions
In this section, which is permanently featured in each journal, we provide an overview of the current understanding of hypermobility within Heritable Disorders of Connective Tissue. We ask that all members familiarise themselves with this up-to-date information, which has changed significantly over the past few years due to continuing research. The article contains the basic essentials for professionals and members wanting to learn about these conditions. By working together, in terms of the terminology we use and the symptoms we recognise, we can ensure a greater understanding within the medical community and a clearer, more uniform approach for our service users. The majority of people with hypermobility syndromes are affected mildly and the aim of professionals, who work with people with these conditions, is to encourage them to overcome obstacles by problem solving and staying physically strong. It is thought that with the right support and interventions most people with a hypermobility syndrome can continue to live a normal life, if their condition is, or has been, properly managed. However, as more research based evidence becomes apparent, there is a growing awareness that, for some, the hypermobility aspects of Heritable Disorders of Connective Tissue can cause complex and multi-systemic problems. 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, therefore, of no medical consequence and commonly does not give rise to symptoms. In some, hypermobility can even be considered an advantage – for example, some athletes, dancers and musicians are specifically selected because of their extra range of movement. It is important to recognise, however, that, whereas flexibility and generalised hypermobility would be considered ‘positive selection criteria’ for many sports and performance activities such as ballet, contemporary dance, gymnastics, netball and high board diving – hypermobility, arising from Disorders of Connective Tissue, such as Ehlers-Danlos syndrome or Joint Hypermobility syndrome, would not. What are the hypermobility syndromes? For a small percentage of the population, instead of being advantageous, hypermobility causes pain, fatigue and other symptoms. For these people, hypermobility can be a sign of more serious underlying conditions, which are often passed to the child by their parents. These conditions are known as Heritable Disorders of Connective Tissue (HDCTs). When our group of medical advisors use the phrase ‘hypermobility syndromes’ they are referring to the group of HDCTs in which symptomatic-hypermobility is now recognised as a common feature. The most common of these is Joint Hypermobility syndrome, thought by many experts to be part of the same spectrum as Ehlers-Danlos syndrome hypermobility type. HDCTs also include the other rarer variants of Ehlers-Danlos syndrome, such as the classical and vascular types, Marfan syndrome, and to differing degrees Osteogenesis Imperfecta and Stickler syndrome. It is important that those working with patients with an HDCT, recognise that each HDCT has its own differing symptoms, which affect each condition specifically, whilst sharing a broader commonality. For instance, in addition to the symptoms shown (see next page), Marfan syndrome and Ehlers-Danlos syndrome vascular type, can involve symptoms which are potentially life threatening and therefore have very different needs, especially when considering physical education / sport and the need for emergency care. Ehlers-Danlos syndrome classical type also has some differing symptoms, which require specific consideration, people with Osteogenesis Imperfecta are more likely to suffer from potential fractures with minimal trauma.
The HMSA can provide information on these specific conditions and more information is also available on our website. 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 inherited looser and stretchier connective tissues, particularly their ligaments, tendons, joints and muscles. Hypermobile people can easily injure joints, ligaments, tendons and other ‘soft tissues’ around joints because their joints can twist, or over extend easily, may partially dislocate (or ‘sublux’), or in some cases may fully dislocate. Whilst the majority of hypermobile people do 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 / fatigue, experienced by those with a hypermobility syndrome, can vary greatly from day to day, or even hour to hour. These symptoms can interfere with daily activities of living, and/or schooling or work. The associated pain can become widespread and persistent and might initially be diagnosed as, or confused with, another condition called fibromyalgia and, on occasion, Myalgic Encephalopathy (ME). Severe fatigue that persists, despite rest or a proper nights sleep, is another common symptom for those with a hypermobility syndrome. 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. It is important that the right diagnosis is made, as the approach to treatment such as physiotherapy and occupational therapy may be different. In each edition of the journal the HMSA’s medical advisers will continue to explore, in more detail, the Heritable Disorders of Connective Tissue, their symptoms and management. Hypermobility syndromes are the group of ‘Heritable Disorders of Connective Tissue’ (HDCTs) in which symptomatic-hypermobility is recognised as a common feature. It is now known that hypermobility syndromes can be complex and affect many bodily functions. The most common of the hypermobility syndromes is Joint Hypermobility syndrome, but the group also includes Ehlers-Danlos syndrome, Marfan syndrome and, to some degree, Osteogenesis Imperfecta and Stickler syndrome. As well as joint problems, a person might have none, or may have any combination of the conditions listed, or, indeed, may never develop these problems.
• Joints that are less stable, leading to hyperextension, sprains, strains, ruptured tendons, torn ligaments, subluxations & dislocations
• Chronic fatigue
• Persistent pain
• Poor proprioception
• Stretchy skin
• Gastrointestinal dysfunction
• Bladder and pelvic problems
• Autonomic dysfunction
• Anxiety, phobic states and depression
Please see our website for more in-depth information: www.hypermobility.org It should be noted that rarer types of Ehlers-Danlos syndrome and other HDCTs such as Marfan syndrome, Stickler syndrome and Osteogenesis Imperfecta each present with their own array of complex symptoms, over and above those listed here. More in-depth information relating to these conditions & links to the individual charity websites involved can be found on our website: www.hypermobility.org
By Claire Smith HMSA Editor & Donna Wicks HMSA CEO / Senior Medical Liaison Officer / RMN (ret) Oct. 2014 HMSA, Sovereign House 22 Shelley Road Worthing W. Sussex BN11 1TU Planned Review Date: Oct.2017 References: •The Hypermobile Child – A Guide for Schools (HMSA October 2014)
•The HMSA Website – This is the website of the Hypermobility Syndromes Association (HMSA). The site includes information for patients and clinicians, the contact details for HMSA regional group leaders, expert clinician and clinic contacts, and links to many useful allied websites.