Osteopetrosis or marble disease is a severe damage to bone tissue, the predisposition to which is laid genetically. The pathology got its name due to the fact that on the cut of x-rays, the affected bone looks like marble. Another name for the disease is deadly marble. It can develop in a person of any age group, but is most commonly diagnosed in children.
Pathology was described and analyzed in detail in 1904 by the German physician Albers-Schoenberg. This is a rare condition, only affecting one in 500,000 people.
Causes of this pathology
The main reason for the development of marble disease is usually called a violation of the metabolic processes of phosphorus and calcium in the body. Connective tissues take part in the work of many organs and systems, but they do not control them.activity and functioning. When pathology appears, the tissues begin to behave uncharacteristically, retaining s alts, which eventually leads to the development of lesions and sclerosis.
Today, medical science is not able to fully explain the cause of such a failure in the functioning of connective tissues. Factors influencing the development of marble disease are also poorly understood. At the same time, medicine was able to identify genes that are able to block protein formations during the mutation period. Genes are responsible for osteoclasts, since it is they that cause aseptic-type bone necrosis. Mutated proteins are no longer involved in osteosynthesis, which leads to the development of osteopetrosis.
Many medical scientists today are of the opinion that we have a hereditary disease, that is, a disease to which there is a genetic predisposition, which explains its frequent occurrence in children. Even the results of studies confirm that the named pathology often occurs in patients who are closely related.
Let's consider the main symptoms of marble disease.
Symptoms of disease
Compacted tissues in the bones eventually begin to displace the bone marrow from them. As a result, anemia, thrombocytopenia, and aseptic necrosis develop in adults and children. In addition, the process of hematopoiesis in such patients occurs outside the bone marrow, namely in the spleen, liver, lymph nodes, gradually leading to an increase in all organs and systems of the body.
People diagnosed with osteopetrosis are characterized by thickening and, along with it, increased bone fragility. In addition, necrosis develops, which provokes fractures. Hip fractures are the most common.
Other signs of illness
There are also a number of other manifestations characteristic of marble disease:
- Children experience sclerosis of the jaws, which further disrupts the process of teething and growth of teeth.
- Osteopetrosis often causes caries.
Patients have:
- Sore limbs.
- Fatigue while walking.
- Aseptic necrosis and pathological bone fractures.
- Anemia of the hypochromic type, resulting from sclerosis of cavities containing red bone that promotes blood production.
- Swollen lymph nodes, spleen and liver.
- Deformation changes in the jaws, chest and skull.
- Hydrocephalus in children under one year old (this pathology leads to developmental delays).
- Deterioration of vision as a result of compression of the optic nerve in the canal affected by the disease.
Course of the disease and stages of pathology
There are two main forms of marble disease depending on the degree of development of the pathology:
- Early form of osteopetrosis. Most often, marble disease is diagnosed in children, and at this stage they have a slowdown in development.bone tissue, including jaws. In addition, this form is accompanied by pathologies such as necrosis, which can cause death. The characteristic features of the early stage are pain and fatigue in the lower extremities.
- Late form. Appears in adults. As a rule, this form proceeds latently. The fragility of the bones in this case is revealed only on the basis of the X-ray examination.
It should be clarified that the appearance of bones affected in the early stages does not change. However, with the development of pathology and the deterioration of the patient's condition, the disease deforms the bone tissues, and their death occurs.
What will the doctor pay attention to?
During the initial examination of the child, the specialist pays attention to the following signs:
- Pale skin.
- Lagging behind in growth, as well as in physical and mental development.
- Dental problems - severe caries, slow growth and teething.
- Bone deformities. Most often, the pathology affects the facial parts of the skull, as well as the hips.
Frequent fractures, even from the gravity of their own weight, do not destroy the periosteum, so the tissues grow together in the usual way.
How is marble disease diagnosed in adults and children?
Diagnosis of disease
In modern medicine, there are several methods for diagnosing the described hereditary disease. The following will help you figure out what is causing it.research:
- Collecting information and related history, examining close relatives of the patient.
- Carrying out X-ray examination, as well as radionuclide. If a person develops marble disease, then his bones harden and become opaque to x-rays.
- Biochemical blood test. This analysis is necessary to determine the level of phosphorus and calcium ions. You also need to pass a general blood test.
- Computed tomography and MRI. These research methods allow you to study the affected tissues in layers and establish the degree of sclerosis.
- Performing prenatal diagnosis.
Treatment of marble disease
Unfortunately, medicine cannot offer a treatment that would help to completely get rid of osteopetrosis. Doctors in such cases carry out symptomatic therapy aimed at strengthening the muscular, nervous, as well as bone tissue of the limbs, jaws and sternum.
Patients with a confirmed diagnosis of marble disease are advised to follow special dietary rules, including more foods containing vitamins in the diet, namely fruits and vegetables, juices and dairy products. In addition, patients with osteopetrosis are prescribed physiotherapy exercises and special massages. Useful for them and treatment in resort and sanatorium conditions. If aseptic-type necrosis is detected, the patient is prescribed drugs with a high iron content. In especially severe cases, red blood cell transfusion may be performed.weigh.
If marble disease provokes bone fractures, then the standard therapy for such cases is carried out, including:
- reposition;
- plaster cast;
- stretching the skeleton;
- installation of endoprostheses for hip fracture;
- and if it is a fracture of the lower leg, then an osteotomy is performed.
With timely prevention and treatment, the described disease has a positive prognosis. However, in the case of a malignant course of the pathology, necrosis of the myelogenous tissue occurs, and then the prognosis becomes unfavorable. Aseptic necrosis, anemia, septicopyemia resulting from a severe fracture of the limbs, jaw and sternum, as well as due to a single-gene inflammatory process, can be fatal.
Bone marrow transplantation is currently considered the most effective treatment for marbled disease.
Prevention
Many are interested in whether there are any specific measures for the prevention of marble disease. Since the predisposition to pathology is inherited, there are special methods that make it possible to diagnose osteopetrosis in a child even at the stage of gestation. After all, the risk of giving birth to a child with this pathology is very high, if among close relatives someone is sick with marble disease. Although this measure is not preventive, it allows parents to make a choice.
A preventive measure for osteopetrosis is considered to be constant monitoring oforthopedist. This specialist monitors deviations in bone development and issues, if necessary, a referral for corrective osteotomy. The latter is a procedure that, through artificial fractures, improves the functioning of the musculoskeletal system. It is artificial fractures that give the bones the opportunity to take the optimal position.
Comfortable conditions for patients with osteopetrosis
It is very important for patients with osteopetrosis to create maximum comfort. This will require the following:
- Low rim bathtub or shower stall.
- Chairs and armchairs with high backs so as not to strain the spine.
- A car equipped with a special seat.
- If possible, it is necessary to eliminate all thresholds and steps in the house.
- No heavy lifting.
- Switching to special orthopedic shoes.
Of course, such measures will not solve the problem of marble disease. However, this will make life easier for the patient and improve their quality of life.
Bone marrow transplant
Bone marrow transplantation is currently the only way to get rid of osteopetrosis. This technique involves a serious surgical intervention, but shows a high degree of effectiveness.
An important point in this case is the search for a donor, which can take more than one year. The patient enters a special list in the transplant queue and waits for the result. There are also a number of negative points. Yes, a bone graft.of the brain is a serious operation with a risk to life. Not in all cases, the bone marrow takes root in the patient's body, sometimes it can be rejected. Therefore, the operation involves the suppression of the human immune system, which can seriously affect his he alth in the future.
Forecast
Osteopetrosis (deadly marble) in its early form leads to a high risk of infant mortality. There have been cases when the disease stopped on its own and for many years did not make itself felt. In other cases, there was a sharp progression of symptoms, anemia became more pronounced, the patient often suffered from purulent infections.
The chance of developing serious complications and death is high in young children. In adulthood, the disease proceeds in a less active form and is manifested only by increased fragility of bone tissues.
Regardless of the severity of marble disease, patients should be under the supervision of an orthopedist for life. The specialist is able to notice the progress of the pathology in time and take appropriate measures.
It is very important to follow the recommendations of a specialist and monitor your he alth. Marble bone disease is a serious pathology that requires the adoption of all measures necessary for recovery and maintenance of the body.
