Medicine understands the clinical term multiple epiphyseal dysplasia to mean anomalies at the joint ends of the long tubular bones. Mutations in the protein-coding genes appear to be responsible for the abnormalities. The focus of the therapy is the alignment of the affected joint surfaces.
What is multiple epiphyseal dysplasia?
Epiphyseal diseases are diseases of the articular ends of long tubular bones. In the heterogeneous disease group of epiphyseal displasia, these articular ends show anomalies. Growth disturbances cause the abnormal growth of the epiphyses. The phenomenon is also called Fairbank disease or Ribbing-Müller disease. See foodezine for Everything about Liver Metastases.
The disease is one of the secondary growth disorders and is a consequence of chromosomal mutations in different expressions. The epiphyses of the hips and ankles are particularly affected. The prevalence of the disease is 1:20,000. From the heterogeneous group of diseases, EDM1 has so far been the best researched. This subform is inherited in an autosomal dominant manner. However, autosomal recessive inheritance is also conceivable within the group of epiphyseal dysplasia.
One of several special forms from this group of diseases is Meyer’s dysplasia of the femoral epiphyses. The group of diseases has not yet been conclusively researched.
The cause of multiple epiphyseal dysplasia lies in the genetic material. Mutations in various genes trigger the growth disorders. Mutations in the COMP gene have been documented as the cause of EDM1. This gene encodes the oligomeric cartilage matrix protein. Because of the mutation, the structure of the protein is abnormal. Its functionality suffers and the structure of the bone matrix is disturbed. All other EMD types are documented in less detail as to their cause.
The mutations appear to be in the genes COL9A2 at gene locus 1p33-p32.2, COL9A3 at gene locus 20q13.3, MATN3 at locus 2p24-p23 and COL9A1 at locus 6q13. All forms therefore have mutations in the proteins that code for the extracellular cartilage matrix. The latter mutation is a collagen IX abnormality. A final and more atypical form of EDM is associated with mutations in the SLC26A2 gene at gene locus 5q32-q33.1.
Autosmall dominant inheritance is standard. Autosomal recessive forms are rarer. The etiopathogenesis remains largely unclear. According to speculation, the transport of protein parts of the proteoglycans is disturbed. The protein parts can no longer migrate from the rough endoplasmic reticulum to the Golgi apparatus.
Symptoms, Ailments & Signs
Multiple epiphyseal dysplasia can manifest itself at various stages of life. In early childhood, most patients are still asymptotic. The first sign of epiphyseal disease is arthritic joint pain. The pre-arthritic changes in multiple joints result in limited range of motion over time.
Gait disturbances such as the waddling gait are a characteristic symptom of the disease. Moderate short stature can also be characteristic. Depending on the actual cause, the multiple epiphyseal lesions are present in combination with additional symptoms. For example, multiple epiphyseal dysplasia is now associated with myopia.
Hearing loss and facial dysmorphism are just as often associated with the heterogeneous group of diseases. The hip and ankle joints are particularly affected by the dysplasia. Arthrotic pain radiates from the joints into the body.
Diagnosis & course of disease
The diagnosis of multiple epiphyseal dysplasia depends on recognizing the signs on the x-ray. The medical history prompts the doctor to take x-ray imaging. X-rays show symmetrical changes in the epiphyses of various long bones. The epiphyseal nuclei appear late, are small, and fragmented. Major and minor nuclei fuse to form abnormal joint ends.
This fusion causes growth retardation and deviation of the axes, thus causing the arthritic changes. Molecular genetic analyzes can provide evidence of gene mutations. The course of multiple epiphyseal dysplasia depends on the causative mutation, the time of diagnosis and the ability to treat it. Early diagnosis has a favorable effect on the prognosis.
As a rule, this disease leads to various malformations and anomalies, which mainly appear in the patient’s joints. This leads to considerable restrictions in everyday life, which can also lead to restrictions in the movement of the patient. It is not uncommon for those affected to also suffer from severe joint pain, which can lead to difficulty sleeping, especially at night.
Those affected become irritated and their quality of life decreases significantly. The pain from the joints can also radiate to other regions and cause problems there. In some cases, this disease also leads to short stature. Persistent pain can also trigger psychological complaints and depression.
In some cases, certain everyday activities cannot be carried out by the person concerned, so that they are dependent on the help of other people. It is not possible to treat the disease causally. However, many aches and pains can be reduced.
However, the affected person is dependent on various therapies. As a rule, life expectancy is not reduced. In some cases, surgery can also be used to relieve the patient’s discomfort. Usually there are no special complications.
When should you go to the doctor?
Discomfort and irregularities in the joints indicate a health impairment. If they persist or increase in intensity, a doctor is needed. If the discrepancies occur after physical exertion or intensive sporting activity, cooling the joints and adequate rest are often sufficient. If spontaneous healing occurs immediately after a restful night’s sleep, a doctor’s visit is not necessary. In the future, overexertion should be avoided and the footwear should be checked for compatibility and, if necessary, optimized.
If mobility or joint activity is restricted, a check-up by a doctor is advisable. Locomotion disorders, malpositions or a crooked posture must be discussed with a doctor so that no permanent damage occurs. If there is a developmental disorder, short stature or poor posture, a doctor must be consulted. Disorders of the general movement sequences or a reduced ability to fulfill everyday obligations should be discussed with a doctor.
Hearing loss is considered a concern. If there is a decrease in hearing, it is advisable to consult a doctor immediately. Pain in the joints or unusual facial deformities are other signs of a medical condition that requires treatment. In addition, to avoid side effects, painkillers should only be taken in consultation with the doctor treating you.
Treatment & Therapy
There is no causal therapy for EDM patients. The genetic mutation cannot be corrected. Treatment is symptomatic. The production of joint surfaces that are as congruent as possible is the focus of therapy in multiple epiphyseal dysplasia. The arthritic pain decreases due to the congruence of the joint surfaces and the joint does not suffer any further damage. Surgery is the method of choice to create congruent joint surfaces. These orthopedic operations ideally take place in childhood.
In this way, consequential damage such as arthrosis can be contained as best as possible. The number of operations required depends on the individual case. In order to improve the quality of life of patients, painkillers can be given for severe pain. Acute pain can be contained, for example, with peripherally acting analgesics. Ideally, patients remain active. To achieve this, physical therapy is the step of choice.
Older patients with multiple epiphyseal dysplasia often suffer from arthrosis despite countermeasures. The onset of this secondary degenerative disease can often only be delayed by the therapy measures mentioned. If there is severe arthrosis in one or more joints, a joint replacement may be necessary. If several joints are affected, the replacement operations take place at times as far apart as possible.
Accompanying physiotherapy is indispensable, especially after such operations. Despite the malformations, other patients in this disease group do not need a joint replacement for the rest of their lives. A causal therapy for the disease may be possible in the future. Medical research is currently dealing with approaches such as gene therapy.
Outlook & Forecast
Multiple epiphyseal dysplasia is caused by a genetic mutation. This must not be changed by the doctor treating you. Legal requirements prohibit physicians from altering human genetics. Therefore, the disease is considered incurable. The patient shows various malformations, optical abnormalities or disturbances of sensory perception immediately after birth and in the further course.
Although no recovery can be achieved, scientists are constantly developing new methods to alleviate the individual symptoms. For this reason, in some cases it is possible to improve the overall situation by starting treatment early and using various treatment steps and surgical interventions. If the operation proceeds without further complications, clear progress in stabilizing health can often be documented.
Overall outcomes are improved when the patient engages in physical therapy and musculoskeletal support training sessions outside of treatment. In addition, various precautions must be taken to reduce the stress on the joints. This contributes significantly to the optimization of well-being and prevents further secondary diseases. Nevertheless, the burden of the disease and the resulting circumstances in everyday life are very high overall and the risk of developing a mental disorder is increased.
The etiology of multiple epiphyseal dysplasia has not been finally elucidated. There are therefore no preventive measures. However, early treatment helps prevent complications.
Multiple epiphyseal dysplasia is a genetic disease that cannot be cured. For this reason, aftercare for this disease does not refer to measures after complete healing, but only to individual steps during therapy. Since full recovery is not possible, only the symptoms of the disease can be treated.
Osteoarthritis that occurs early, for example, can be at least partially alleviated with shoe inserts and other orthopedic aids. In addition, physiotherapeutic treatment usually has a beneficial effect on the condition of patients with multiple epiphyseal dysplasia. The same applies to the joint pain associated with the disease.
Follow-up care for this disease tends to include monitoring individual measures, such as surgical interventions. In the advanced stage of arthrosis, surgical interventions can be considered, in which artificial joints are used, for example. In such a case, the follow-up care is similar to that in other postoperative situations.
Intensive physiotherapy is essential for the patient to get used to the new joint. A meal plan developed by a professional nutritionist can have a beneficial effect on the condition of osteoarthritis, as can a generally healthy lifestyle with light physical activity.
You can do that yourself
Since multiple epiphyseal dysplasia is based on a genetic mutation, a causal therapy is not possible. The possibilities for self-help are therefore also limited. However, measures can be taken to relieve symptoms.
Maintaining physical activity is an important supplement to medical therapy. With physiotherapy support, patients can learn exercises that help relieve pain. Other alternative pain management options should also be tried. This can be, for example, acupuncture, hypnosis or progressive muscle relaxation. Doctors and physiotherapists provide information about the individually suitable treatment option. It is important to continuously apply the respective accompanying measures. This is the only way to achieve long-term physical and psychological success from these therapies.
A structured daily routine helps to make time for exercise and relaxation. In addition to such applications, it is important to include the social environment. A healthy social life can help maintain an active lifestyle. An intact social network is also important for support in acute pain and other serious symptoms of the disease. Despite a difficult prognosis and lengthy treatments, a positive contribution can be made to maintaining quality of life.