Hypermobility syndrome (or HMS according to abbreviationfinder) is characterized by excessive joint flexibility caused by congenital weakness of the connective tissue. Little is known about the cause of the disease. The quality of life is particularly limited by chronic pain in the joints.
What is Hypermobility Syndrome?
The main symptom of hypermobility syndrome is the hypermobility of the joints to the point of hyperextensibility.
Hypermobility syndrome is a connective tissue weakness that leads to unusual overmobility of the joints. The disease is characterized by hyperextensibility of the joints. The distinction between normal mobility and hypermobility is fluid. The syndrome is associated with complaints in the musculoskeletal system, which must be differentiated from rheumatic diseases.
HMS must also be considered separately from other diseases associated with joint hypermobility such as Marfan syndrome, rheumatoid arthritis, osteogenesis imperfecta or Ehlers-Danlos syndrome. With regard to Ehlers-Danlos syndrome, however, there is debate as to whether hypermobility syndrome is a mild variant of this disease. Despite the benign course, the quality of life is severely impaired by the symptoms. Since the disease occurs very rarely, there is very little experience about its causes and effects.
Causes
Very little is known about the causes of hypermobility syndrome. In 1986 it was included in the International Nosology of Hereditary Diseases of Connective Tissue. Conflicting information can be found in the literature. It is said to be an autosomal dominant hereditary disease. However, the affected gene is not named. Other publications do not assume that the disease is hereditary.
It is also not clear to what extent the syndrome can be differentiated from other diseases. Connections to Ehler-Danlos syndrome are suspected by some researchers, with HMS being a mild variant of this disease. An autosomal dominant inheritance is known for this syndrome.
Symptoms, Ailments & Signs
The main symptom of hypermobility syndrome is the hypermobility of the joints to the point of hyperextensibility. In small children, this hypermobility is still physiological because the connective tissue is not fully developed at this age. During puberty, the joints complete maturation and their mobility usually decreases. However, this is not the case with 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. There is a point when 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 hyperextension of the knee joint is greater than 10 degrees and the palms of the hands are extended Kneel down on the floor. Four or more points indicate hypermobility syndrome.
Generalized hypermobility is of pathological value only when chronic pain, arthralgia, soft tissue rheumatism at more than three sites, neurological and psychological problems, and other symptoms are present. Symptoms may or may not appear. Overall, the clinical picture is very variable. Some toddlers have trouble learning to walk.
In other people, the first symptoms do not appear until puberty. The common symptom is the progressive progressive course of the disease. Life expectancy is usually normal except in rare cases where vascular involvement is noted.
Diagnosis & course of disease
To diagnose the hypermobility syndrome, differential diagnoses must be carried out to distinguish it from other diseases. These conditions include Marfan syndrome, rheumatoid arthritis, fibromyalgia, normal growing pains, and Ehlers-Danlos syndrome. According to some definitions, however, there are overlaps with the Ehlers-Danlos syndrome.
Complications
Hypermobility syndrome severely restricts and reduces quality of life. The affected person usually suffers from severe pain, which mainly affects the joints. This also leads to restricted movement, 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 easily carry out normal activities in everyday life or sporting activities. The joints can also be overstretched. The pain can also appear in the form of rest pain and thus also lead to sleep disorders. Hypermobility syndrome does not usually lead to a reduction in life expectancy, but the syndrome progresses over time and leads to increasing symptoms.
The persistent pain often leads to depression and other mental upsets in the patient. It is not possible to treat the hypermobility syndrome causally. For this reason, only symptomatic treatment is carried out. This does not lead to further complications or complaints. 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 doctor should be consulted as soon as any skeletal discomfort or pain occurs. If there are changes in mobility and abnormalities in movement options, a doctor should examine the physical conditions more closely. In the case of hypermobility and hyperextensibility of the joints, there are often diseases that have an insidious course of the disease. Therefore, a doctor should be consulted as soon as possible.
If the performance of the person concerned decreases or if he has the feeling of a loss of strength, a doctor should be consulted. In the case of rheumatic complaints, the disease is already at an advanced stage. Therefore, in these cases, a doctor should be consulted immediately. If physical activities can no longer be carried out as usual, if there is inner restlessness or if the person concerned often feels exhausted, it is advisable to clarify the symptoms.
If you feel ill, feel unwell or have psychological problems, we strongly recommend that you see a doctor for a check-up. If the symptoms persist for several weeks or months, there is cause for concern. If they increase in intensity or extent, the person affected needs medical help and medical care. If children have unusual problems learning to move, it is advisable to discuss the observations with a doctor. If walking is refused or restricted more and more, a doctor should be consulted.
Treatment & Therapy
A causal therapy of hypermobility syndrome is not possible. However, four groups of complaints must be treated individually. These include:
- the orthopedic problems
- the pain treatment
- the effects on the nervous system
- the blood vessel changes
The orthopedic problems have to be treated differently than with classic rheumatic diseases. Caution should be exercised during surgical interventions because ligament tightening is often unsuccessful and disturbed scarring occurs. Muscle building exercises are even counterproductive. The focus is on building depth stability. Avoid contact sports and repetitive activities. For this, gentle forms of training should be carried out without overstretching.
If nerve pinching occurs frequently due to muscle tension, it makes sense to use neck pillows or neck braces. The vascular system should also be observed in order to be able to react quickly at the first signs of impending circulatory disorders in the brain. Since pain is the most limiting factor in quality of life, the main focus should be on pain management.
Pain therapy consists of talk therapy, relaxation techniques and the use of weak opiates such as tilidine, tramadol and codeine. In the case of depression, a combination with pain-relieving antidepressants is also useful. Behavioral therapy should promote behaviors that make it easier to deal with the disease and develop strategies to minimize its effects.
The variability of the disease makes it necessary to develop individual strategies to deal with the problems. Dealing with hypermobility syndrome is a lifelong process.
Outlook & Forecast
The prognosis of hypermobility syndrome is described by doctors as unfavorable. Although life expectancy is not shortened by the disorders, there are severe impairments in coping with everyday duties. The chronic disease is based on a genetic defect and is therefore considered incurable. Scientists and researchers have no legal authority to alter a person’s genetics. For this reason, the medical treatment of the disease is limited to treating the present symptoms.
The symptoms are individual, but are aimed at the human musculoskeletal system. They also tend to increase over the course of life. In a large number of patients, psychological consequences or illnesses develop as a result of the limitations of the disease. The burden of physical deficits is transferred to the emotional level and leads to a reduction in well-being. This makes it more difficult to achieve possible treatment successes and can also intensify existing symptoms. In many cases, the patients are dependent on the help of others on a daily basis because they cannot cope with everyday life on their own. The feeling of helplessness can trigger frustration, behavioral problems, or personality changes. In addition, the patient suffers from severe pain.
Prevention
There is no way to prevent hypermobility syndrome as it is most likely a congenital defect in the connective tissue. However, everything should be done to avoid secondary diseases through the wide range of therapy options. This includes building up the deep stability of the joints through gentle forms of training, monitoring the blood vessels to avoid circulatory disorders or strokes, preventing nerve entrapment with a neck brace and pain therapy.
Aftercare
In most cases, those affected with hypermobility syndrome only have a few direct follow-up measures available. Since this is also a congenital disease, it cannot be completely cured, so that the patient is dependent on lifelong therapy. If the person concerned wishes to have children, genetic counseling can also be carried out.
This makes it possible to see how likely the disease is to develop in the children. The focus of hypermobility syndrome is early detection and treatment to prevent further complications or symptoms. As a rule, the symptoms of hypermobility syndrome are treated by physiotherapy or pain therapy.
The person concerned can do many exercises from these therapies at home and thus speed up the treatment. The help and support of one’s own family or friends is also very important with this disease and can prevent depression or other mental upsets in particular. However, in some cases, professional, psychological support is necessary. However, the life expectancy of those affected is not negatively influenced or otherwise reduced by the hypermobility syndrome.
You can do that yourself
In the case of hypermobility syndrome, some symptoms can also be limited by means of self-help, so that medical treatment is not always necessary.
In the case of muscle tension, special cushions and other aids can be used to prevent and treat them. Exercises to relax the muscles and the body can also be used in hypermobility syndrome, with yoga being particularly suitable for this. However, strenuous activities or sporting activities should be avoided in order not to overload the body and muscles. Exercises that build muscle should be avoided. Also pain therapyshould be performed in this syndrome. This therapy is usually carried out on the basis of a doctor’s order. However, the sufferer should avoid painkillers whenever possible, as they damage the stomach if taken over a long period of time.
In the case of depression and other psychological complaints caused by hypermobility syndrome, a psychologist should always be contacted. However, discussions with relatives or friends can also have a positive effect on the course of the disease. Those affected are also dependent on regular examinations of the blood vessels and blood circulation in order to prevent possible complications and disorders.
