Osteopetrosis or marble disease is a severe lesion of bone tissue, a predisposition to which is laid genetically. The pathology got its name due to the fact that on the x-ray section of the affected bone looks like marble. Another name for the disease is deadly marble. It can develop in a person from any age group, but is most often diagnosed in children.
Pathology was described and analyzed in detail in 1904 by the German physician Albers-Schoenberg. This is a rare disease, it occurs in only one person in 500 thousand.
The 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 their activity and functioning. When pathology appears, the tissues begin to behave uncharacteristically, retaining salts, which over time leads to the development of damage and sclerosis.
Today, medical science is not able to fully explain the reason for such a malfunction in the functioning of connective tissues. Factors affecting 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 necrosis of bone tissue. Mutated proteins no longer participate 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 with a genetic predisposition, which explains its frequent appearance in children. Even the results of studies confirm that this pathology is often found in patients who are closely related.
Consider the main symptoms of marble disease.
Symptoms of the disease
Densified tissues in the bones begin to displace the bone marrow from them over time. 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.
For people with a diagnosis of "osteopetrosis" is characterized by compaction and, along with this, increased bone fragility. In addition, necrosis develops, which provokes fractures. Hip fractures most commonly occur.
Other signs of the disease
There are also a number of other manifestations characteristic of marble disease:
- In children, sclerosis of the jaws occurs, which further disrupts the process of teething and tooth growth.
- Osteopetrosis often causes tooth decay.
Patients observed:
- Sore limbs.
- Fatigue while walking.
- Aseptic necrosis and bone fractures of a pathological nature.
- Hypochromic type anemia resulting from sclerotherapy of cavities containing red bone tissue, which contributes to blood production.
- Enlarged lymph nodes, spleen and liver.
- Deformational changes in the jaw, chest and skull.
- Hydrocephalus in children up to a year (this pathology leads to developmental delays).
- Visual impairment as a result of squeezing of the optic nerve in the canal affected by the disease.
The course of the disease and the stage of pathology
Two main forms of marble disease are distinguished, depending on the degree of development of pathology:
- An early form of osteopetrosis. Most often, marble disease is diagnosed in children, and at this stage they have a slowdown in the development of bone tissue, including the jaw. In addition, this form is accompanied by pathologies such as necrosis, which can lead to death. The characteristic features of the early stage are pain and fatigue in the lower extremities.
- Late form. Appears in people of mature age. As a rule, this form proceeds latently. Fragility of bones is revealed in this case only on the basis of an X-ray examination.
It must 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 tissue, 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.
- Lag in growth, as well as in physical and mental development.
- Dental problems - severe caries damage, 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 severity of their own weight, do not destroy the periosteum, therefore, tissue fuses in the usual way.
How is marble disease diagnosed in adults and children?
Diagnosis of ailment
In modern medicine, there are several methods for diagnosing the described hereditary disease. The following studies will help to determine the cause of its appearance:
- Collection of information and related history, examination of close relatives of the patient.
- Conducting x-ray studies, as well as radionuclide. If a person develops a marble disease, then his bones become denser and become opaque to x-rays.
- Biochemical blood test. This analysis is necessary to determine the level of phosphorus and calcium ions. You must also pass a general blood test.
- Computed tomography and MRI. These research methods allow for the layered study of the affected tissue and establish the degree of sclerosis.
- Conducting prenatal diagnosis.
Marble disease treatment
Unfortunately, medicine cannot offer a method of treatment that would help completely get rid of osteopetrosis. Doctors in such cases carry out symptomatic therapy aimed at strengthening the muscle, nervous and bone tissue of the limbs, jaws and sternum.
Patients with a confirmed diagnosis of "marble disease" are advised to follow special nutritional rules, including more foods containing vitamins in their diet, namely fruits and vegetables, juices and dairy products. In addition, physiotherapy exercises and special massages are prescribed for patients with osteopetrosis. Useful for them and treatment in spa and sanatorium conditions. When detecting aseptic necrosis, the patient is prescribed drugs with a high iron content. In especially severe cases, red blood cell transfusion may be performed.
If marble disease provokes bone fractures, then standard therapy for such cases is carried out, including:
- reposition;
- cast gypsum;
- skeleton traction;
- 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 pathology, necrosis of 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 unified inflammatory process, can lead to death.
The most effective method of treating marble disease today is a bone marrow transplant.
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 techniques that make it possible to diagnose osteopetrosis in a child at the stage of gestation. After all, there is a very great risk of having a baby with this pathology, if among close relatives someone is sick with a marble disease. This measure is not preventive, but it allows parents to make a choice.
A preventive measure in osteopetrosis is considered constant monitoring by an orthopedist. This specialist keeps abnormalities in the development of bones under control and issues, if necessary, a referral to corrective osteotomy. The latter is a procedure that, through artificial fractures, can improve the functioning of the musculoskeletal system. It is artificial fractures that give bones the opportunity to take an 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-edge bathtub or shower.
- 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 attacks in the house.
- Refusal to lift weights.
- Transition to special orthopedic shoes.
Of course, such measures will not solve the problem of marble disease. However, this will facilitate the patient’s life and improve his quality of life.
Bone marrow transplantation
A bone marrow transplant is the only way to get rid of osteopetrosis at the moment. This technique involves serious surgical intervention, but shows a high degree of effectiveness.
An important point in this case is the search for a donor that can last more than one year. The patient fits into a special sheet in the transplant queue and expects the result. There are a number of negative points. So, bone marrow transplantation 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 suppressing the human immune system, which can seriously affect his health in the future.
Forecast
Osteopetrosis (deadly marble) in an early form leads to a high risk of infant mortality. Cases were recorded 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 likelihood of 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 the course of marble disease, patients should be under the supervision of an orthopedist for life. The specialist is able to notice in time the begun progress of the pathology and take appropriate measures.
It is very important to follow the recommendations of a specialist and monitor your health. Marble bone disease is a serious pathology that requires the adoption of all necessary measures for recovery and maintenance of the body.