Hypermobility syndrome (HMS) is characterized by excessive flexibility of the joints caused by congenital connective tissue weakness. Little is known about the cause of the condition. Quality of life is particularly limited by chronic pain in the joints.
What is hypermobility syndrome?
Hypermobility syndrome is a connective tissue weakness that leads to unusual overmovement of the joints. The condition is characterized by hyperextensibility of the joints. The distinction between normal mobility and hypermobility is fluid. Musculoskeletal complaints are associated with the syndrome, but they must be differentiated from rheumatic diseases. HMS must also be considered separately from other disorders associated with joint hypermobility such as Marfan syndrome, rheumatoid arthritis, osteogenesis imperfecta, or Ehlers-Danlos syndrome. However, with regard to Ehlers-Danlos syndrome, there is debate as to whether hypermobility syndrome is a mild variant of this condition. Despite a benign course, the quality of life is very much affected by the symptoms. Because the condition occurs very rarely, there is very little experience about its causes and its effects.
Causes
Very little is known about the causes of hypermobility syndrome. In 1986, it was included in the International Nosology of Hereditary Disorders of Connective Tissue. Conflicting data can be found in the literature. It is said to be an autosomal dominant hereditary disease. However, the gene involved is not mentioned. In other publications, a hereditary disease is not assumed. It is also not clear to what extent the syndrome can be distinguished from other diseases. Some researchers have suggested links to Ehler-Danlos syndrome, with HMS being a mild variant of this disease. This syndrome is known to have an autosomal dominant inheritance.
Symptoms, complaints, and signs
The main symptom of hypermobility syndrome is overmovement of the joints to the point of hyperextensibility. In young children, this hypermobility is still physiologic because the connective tissue is not fully developed at this age. During puberty, the maturation of the joints is completed and their mobility usually decreases. However, this is not the case with the hypermobility syndrome. On the contrary, mobility actually increases. The syndrome is defined according to the so-called Beighton Score. The Beighton Score is a point system that describes the extent of hyperextension. Thus, there is one point each if the hyperextensibility of an elbow is greater than 10 degrees, the thumb touches the forearm, the base joint of the little finger can be extended to 90 degrees, the hyperextensibility of the knee joint is greater than 10 degrees, and the palms of the hands rest on the floor with the knees extended. If four or more points are present, a hypermobility syndrome is present. Generalized hypermobility is not of pathologic value until chronic pain, arthralgias, soft tissue rheumatism at more than three points, neurologic and psychological problems, and other symptoms are added. The symptoms may occur, but do not have to. Overall, the clinical picture is highly variable. Some young children have difficulty learning to walk. In others, the first symptoms do not appear until puberty. The common symptom is the progressive progression of the disease. Life expectancy is usually normal except in rare cases where there is vascular involvement.
Diagnosis and disease progression
To diagnose hypermobility syndrome, differential diagnoses must be performed to differentiate it from other conditions. These conditions include Marfan syndrome, rheumatoid arthritis, fibromyalgia, normal growing pains, and Ehlers-Danlos syndrome. However, according to some definitions, there is overlap with Ehlers-Danlos syndrome.
Complications
Due to hypermobility syndrome, there is a severe limitation and reduction in the quality of life. The affected person usually suffers from severe pain that mainly affects the joints. This also results in movement restrictions, so that the patient may also be dependent on the help of other people in everyday life.The mobility of the joints decreases and leads to severe restrictions. This means that the patient can no longer perform normal everyday activities or sports without difficulty. Likewise, the joints can become hyperextended. The pain can also occur in the form of pain at rest and thus also lead to sleep disturbances. Hypermobility syndrome usually does not lead to a reduction in life expectancy, however, the syndrome progresses over time and leads to increasingly severe discomfort. Due to the persistent pain, it is not uncommon for patients to experience depression and other psychological upsets as a result. It is not possible to treat hypermobility syndrome causally. For this reason, only symptomatic treatment is carried out. This does not lead to further complications or discomfort. However, it cannot be predicted whether the treatment will also lead to a positive course of the disease.
When should you go to the doctor?
A physician should be consulted as soon as discomfort or pain of the skeletal system occurs. If there are changes in mobility and abnormalities in range of motion, a physician should examine the physical conditions more closely. In the case of over-mobility as well as over-extensibility of the joints, there are often illnesses that have a gradual course of disease. Therefore, a doctor should be consulted as soon as possible. If the performance of the affected person decreases or he has the feeling of a loss of strength, a doctor should be consulted. In the case of rheumatic complaints, the disease is already in an advanced stage. Therefore, in these cases, a visit to the doctor should be made immediately. If physical activities can no longer be performed as usual, if there is inner restlessness or if the person concerned feels frequently exhausted, a clarification of the complaints is advisable. In the event of a feeling of illness, malaise or psychological problems, a check-up visit to a doctor is highly recommended. If the complaints persist for several weeks or months, there is cause for concern. If they increase in intensity or extent, the affected person needs medical help as well as medical care. If children have unusual problems learning to walk, it is advisable to discuss the observations with a physician. If walking is refused or becomes increasingly restricted, a physician should be consulted.
Treatment and therapy
There is no causative therapy for hypermobility syndrome. However, four groups of complaints must be treated individually. These include:
- The orthopedic problems
- The pain management
- The effects on the nervous system
- The blood vessel changes
The orthopedic problems must be treated differently from classic rheumatic diseases. Restraint is to be exercised in surgically
en interventions to exercise, because ligament tightening is often not successful and disturbed scarring occurs. Muscle building exercises are even counterproductive. Thus, the focus is on building deep stability. Contact sports and frequently repetitive activities should be avoided. Instead, gentle forms of exercise without overextension should be performed. If nerve pinching due to muscle tension occurs more often, the use of neck pillows or neck braces is advisable. The vascular system should also be monitored in order to be able to react quickly at the first signs of impending circulatory disorders of the brain. Since pain is the most limiting factor in quality of life, the main focus should be on pain management. Pain management consists of talk therapy, relaxation techniques and taking weak opiates such as tilidine, tramadol as well as codeine. In cases of depression, a combination with pain-relieving antidepressants is also useful. Behavioral therapy should promote behaviors that facilitate coping with the disease and develop strategies to minimize its effects. The variability of the disorder makes it necessary to develop individualized coping strategies. Dealing with hypermobility syndrome is a lifelong process.
Outlook and prognosis
The prognosis of hypermobility syndrome is described by physicians as unfavorable. Although life expectancy is not shortened by the disorders, there are severe impairments in managing daily responsibilities.The chronic disease is based on a genetic defect and is therefore not considered curable. Scientists and researchers have no legal authority to change a person’s genetics. For this reason, medical treatment of the disease is limited to taking care of the presenting symptoms. The symptoms are individual, but they are directed at the musculoskeletal system of the person. Moreover, they usually increase in the course of life. In a large number of patients, psychological sequelae or diseases develop as a result of the limitations of the disease. The stress of the physical deficits is transferred to the emotional level and leads to a reduction in well-being. Overall, this makes possible treatment success more difficult and can also exacerbate existing complaints. In many cases, patients are dependent on the help of others on a daily basis, as they are unable to cope with everyday life on their own. The feeling of helplessness can trigger frustration, behavioral problems or changes in personality. In addition, the affected person suffers from severe pain. The active ingredients of pain-relieving preparations cause addictive behavior and trigger further secondary diseases.
Prevention
There is no way to prevent hypermobility syndrome because, in all likelihood, it is a congenital defect of the connective tissue. However, every effort should be made to prevent sequelae through the wide range of therapies available. These include building deep joint stability through gentle forms of exercise, monitoring blood vessels to prevent circulatory problems or strokes, preventing nerve entrapment through a neck brace, and pain management.
Follow-up care
In hypermobility syndrome, few measures of direct aftercare are available to the affected person in most cases. Because it is also a congenital disease, it cannot be completely cured, so the patient is dependent on lifelong therapy in this case. If the affected person wishes to have children, genetic counseling can also be performed. This can help identify how likely the disease will occur in the children. The main focus in hypermobility syndrome is early detection and treatment to prevent further complications or discomfort. Usually, the symptoms of hypermobility syndrome are treated through physical therapy or pain management. In doing so, the affected person can perform many exercises from these therapies in his or her own home, thereby accelerating the treatment. The help and support of one’s family or friends is also very important in this disease and can prevent depression or other psychological upsets in particular. However, in some cases, professional, psychological support is necessary. However, the life expectancy of the affected person is not negatively affected or otherwise reduced by hypermobility syndrome.
Here’s what you can do yourself
In hypermobility syndrome, some complaints can also be limited by means of self-help, so that medical treatment does not always have to take place. For muscle tension, special pillows and other aids can be used to prevent and treat it. Exercises to relax the muscles and the body can also be used for hypermobility syndrome, and yoga is particularly suitable for this. However, strenuous activities or sports should be avoided to avoid overloading the body and muscles. Especially exercises that build up muscles should be avoided. Pain therapy should also be performed for this syndrome. This therapy is usually performed according to a doctor’s order. However, the affected person should avoid painkillers in any case, if it is possible, because they damage the stomach if taken for a long period of time. In case of depression and other psychological complaints caused by hypermobility syndrome, a psychologist should always be contacted. However, conversations with relatives or friends can also have a positive effect on the course of the disease. Those affected are also dependent on regular examination of the blood vessels and blood circulation in order to prevent possible complications and disorders.
