What is fibrodysplasia ossificans progressive: symptoms and treatment
Fibrodysplasia ossificans: certain death in a stone body
Fibrodysplasia — the disease is extremely rare and is characterized by a constant agostiniana soft skeletal tissue.
The disease affects the connective tissue layers of muscle, aponeurosis, fascia and tendons.
Fibrodysplasia is synonymous with skeletal anomalies congenital in nature.
The disease is characterized spuskovymi episodes of nabuhanie in the soft tissues, which leads to their transformation into bone tissue.
What is known about the disease?
Until relatively recently, this disease was known in academic medical literature as «myositis ossificans», secondary disease of the skeleton.
Recent studies have shown that this title is not quite displays the pathogenic source, the essence of the disease FOP (fibrodysplasia ossificans progressive).
This disease causes the scientific interest is not the first century: details collected from 1648, when the literature was first referred a patient with ossification.
Based on the collected since data obtained from clinical studies of patients, ossification, i.e. the ossification of skeletal muscle begins almost immediately after birth, and the disease is spreading from top to bottom, in this order:
- the muscles of the neck and back;
The disease manifests itself even on the chewing muscles, there are indications that patients suffering from their ossification, died due to exhaustion.
It does not matter when the disease manifests itself and goes on the peak of development, as the rate of regression of motor activity due to the development does not.
Any local inflammation of the media who, regardless of its causes, is likely to entail a beginning and further progression of the disease.
The infiltration of inflammatory cells in muscle tissue stimulates and accelerates the inflammatory phase of the violation.
During ripening, the fibrous tissue is involved in the process nonvascular seal, and into the cartilage, this tissue has already entered the stage of osteogenesis and, of course, involved in the process is characteristic of ossification.
Stage of development of the disease
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So, one can distinguish the following stages of the progress of the disease:
- catalyst, initial, small local inflammation;
- the progression of the disease and the involvement in the inflammatory process of the tissues around the site of the first outbreak;
- stage avascular seal;
- stage osteogenesis and ossification.
Thus, after analyzing the stage of the disease, it can be argued that different areas affected Monheimer at different speeds undergo a process of ossification.
However, despite the fact that this costituita similar to the formation of the bones of the skeleton in the embryo, the main difference is that in the primary skeletoobraznyh there is no inflammation.
However, researchers agree on the idea that these differences should be considered conditional, as it is not confirmed due to the fact that the biopsy, i.e. a sample of the affected areas of the body, such patients is fraught with extension of tumor disease.
The causes of the disease
Factors that contribute to the development of fibrodysplasia still not clear, however, researchers actively search for the answer to this question.
First of all, it should be noted that the researchers did not find any racial, sexual and geographical points inclination to who. But a genetic predisposition takes place, which confirms the statistics.
The frequency of congenital defects is about 75%.
Myositis ossificans is seen as a pervasive disease, which has a different degree of activity of the gene.
In the overwhelming number of cases, the disease has a point, however, documented cases within one family were several members residing in kinship: father – children, brothers – sisters, etc.
Symptoms and diagnosis
The two most obvious symptom of fibrodysplasia:
- inflammatory disturbances in the fibers;
- heterotopic bone formation.
- traumatic scostante.
This newly formed bone and the remaining bone tissue in the body does not have any differences.
Costituita soft tissue leads to the decrease of muscle strength, the progression of degenerative disorders of the nature and the development of ankylosis out of the joints.
There is no clear scheme, under which conditions the ossification affects relatively small areas, but when it zapolonyayut all around the affected region.
Symptoms of POF can serve as the ossification of soft tissues, and a variety of defects in development.
The most common such defects as:
- korotkoplodnyh of the big toe;
- hypoplasia of the phalanges, short thumb on the hand;
- clinodactyly in the fifth finger, i.e. its curvature, bevel;
- defects in the cervical spine;
- extension and shortening in the necks of the femur and humerus;
- there is also the possibility of deafness, baldness, hypogonadism, and developmental delay.
Often, the violation entails the development of scoliosis, torticollis and joint stiffness.
The disease may be diagnosed only after accelerated osteogenesis in skeletal tissues, which is manifested in children from birth up to 13-14 years.
Most often the disease is diagnosed in the second half year after the onset of illness. Nevertheless, congenital anomalies, naturally, draw attention to themselves immediately after birth.
To diagnose this disease, alas, is almost impossible. The reason for the late recognition of POF is associated primarily with the fact that doctors and researchers, very little is known of the etymology of abnormalities, like abnormalities of the big toe.
At this stage of the study of fibrodysplasia of the most important discoveries of a genetic nature.
The main finding in this area is the identification of the evolutionary changes in BMP4 gene and its RNA among cells in 26 of 32 patients with fibrodysplasia.
BMP4 is a special regulatory protein, forming teeth, bones and participates in the regeneration of fractures. Have protein BMP4 is also genes, mutations of which may cause violations.
Thus, even in the 21st century is not known for certain genes of POF.
We can assume, and rightly so, fibrodysplasia diagnosed in the patient, lies at the genetic level.
There is also the possibility that the disease can be caused by several genes acting in a single.
How to slow down the progression of the disease
Due to the fact that a causal factor in the development of fibrodysplasia no known effective treatment of the disease has not yet been developed.
However, there are certain drugs that slow the progress of the disease.
Stands out among other drug Interferon-g.
Long enough interferonbeta therapy stimulates muscle and subcutaneous infiltrates. It is also reasonable to use bifosfonatov and ethylenediaminetetraacetic acid.
With regards to secondary prevention of the process of the disease, you should know that sick fibrodysplasia is to exclude all interference from surgery, injections and minimize the risk of injury.