Hypermobility Syndrome
The hypermobility syndrome (HMS) is one of a group of inherited diseases which affect the connective tissues of the body. It is a multi-system disorder which may result in a wide variety of clinical features and disabilities.
Fibrous proteins (collagens, elastins, fibrillins) give the body its strength. A defect in genetic information which determines the biochemical structure and strength of those proteins may cause structural weakness in muscle, tendon, ligament cartilage, bone, the blood vessels, eyes and skin. The clinical effects depend on the function of the particular tissue affected. Joints may become lax, unstable and hypermobile with increased tendency to dislocation and vulnerability to the effects of injury. Bones may become osteoporotic, predisposing to fractures. The body-shape may take on characteristic body proportions (called "Marfanoid") with long slender limbs, twisting of the spine and chest deformity. Skin shows increased stretchiness and the blood vessels (vasculature) may also be affected in certain of the diseases associated with HMS, such as the Ehlers-Danlos syndrome, with involvement of the heart and major vessels. Eye involvement may occur as dislocation of the lens in the Marfan syndrome where the lens ligament is lax and unable to hold the lens in a stable manner.
Approximately 10% of the adult population is hypermobile. The prevalence varies among different ethnic groups and is greater in women. The majority of affected people have no significant disability. People in some occupations or pursuits find it an asset, for example ballet dancers, gymnasts, yoga, violin players, flautists, snooker players. However, any hypermobile joint is vulnerable. The hypermobile back if used excessively, may be subject to prolapsed discs, stress fractures, spinal narrowing and other mechanical problems. People with severe forms of hypermobility syndromes (particularly those with greater degrees of tissue laxity and fragility) may lead a restricted life because their tissues are so fragile.
Symptoms tend to be similar in hypermobility syndromes irrespective of the cause. Due to the weaknesses in muscle, ligaments, tendons and cartilage, etc, there may be joint pain, dislocations of joints, and fractures. In any hypermobile joint, "over-use" injury can cause pain and loss of function. The same is true of the back. Stress fractures of bone are not uncommon. Joint and/or muscle pain may be a prominent symptom. Hypermobility may be a serious potential source of problems in children. Many will develop osteoarthritis in time. With age, joint hypermobility declines, but other complications resulting from HMS may arise, such as secondary osteoarthritis; osteoporosis with resultant fractures; and loss of balance particularly in the older person, which may result in falls, especially if there is also impaired vision.
Care Needs
(i) People with severe forms of the hypermobility syndrome may be in frequent or constant pain that is worsened by movements, especially those involving physical effort such as lifting, moving around etc. Joints may dislocate during quite simple movements eg. with the hands or shoulders. When the tissues are damaged, physically demanding activities are also painful and give rise to care needs from another person. Depression may ensue - partly because of the pain, partly because of the inability to perform some normal daily tasks and to enjoy a normal life. Periods of rest throughout the day may be required especially after what a normal person might consider a modest bout of physical activity. Falls may occur so that certain activities such as bathing, using stairs, etc may need to be supervised, particularly in elderly people with this syndrome.
(ii) Main meal preparation, especially cutting up vegetables, opening jars, lifting pans and using taps may prove to be difficult in those with more advanced disease.
Mobility Considerations
(i) Because the connective tissues are lax and fragile they may be easily injured. The combination of joint pain (especially in the knees) and instability (back-bending, knees, etc) may make walking difficult. There may also be problems with balance.
(ii) The ability to walk may be limited in people with severe forms of the syndrome, requiring the use of walking aids (cane, crutches) or wheelchair. The person may have a tendency to lose balance and fall, with difficulty getting up.
Duration of Needs
(i) Many of the clinical manifestations of hypermobility syndrome result from sudden injuries to the soft tissues which heal within weeks or months, either spontaneously or after medical, surgical or physiotherapy treatment. Once severe irreversible damage has taken place to joints the outlook is largely determined by whether that joint is amenable to joint replacement. Disability associated with chronic painful conditions (eg back pain or widespread osteoarthritis) is less likely to respond to treatment and may persist indefinitely.