What is osteopetrosis (marble bone disease, a deadly marble): treatment, prognosis

Osteopetrosis is a lethal marble that breaks life

A rare congenital anomaly of the bone tissue, characterized by a strong seal bones were first described in 1904 by the German surgeon Albers-Schoenberg.

The bones in this disease become dense, heavy. Cut the affected bone is a homogeneous smooth surface resembling marble.

Hence the second name of the disease – marble disease.

The cause of pathology?

Marble bone disease or osteopetrosis (other names giperstenichesky dysplasia, a disease Albers-Schoenberg, congenital osteosclerosis) is a rare congenital malformation of musculoskeletal system, characterized by excessive bone formation.

In congenital osteosclerosis observed compaction and simultaneous fragility of bones, and functional impairment of hematopoiesis occurring in the bone marrow.

In a healthy person the process of bone formation by osteoblasts (cells that produce bone tissue) and bone resorption by osteoclasts (cells that destroy bone tissue) are in equilibrium.

Marble bone disease is accompanied by impaired function of osteoclasts. The number of cells of osteoclasts may be normal, elevated, or low.

The exact mechanism of pathology development are still not fully understood. Proven only that the development of the disease involved 3 of the gene responsible for the formation of bone and hematopoietic tissue.

The result of genetic disorders in osteopetroses is reduced bone resorption caused by deficiency of the enzyme carbonic anhydrase in osteoclasts.

The intensity of the processes of bone formation by osteoblasts is not reduced, which leads to compaction of bone tissue, an excess of it.

What is the cause of violations of the genes is not known. But it is well established that there is a hereditary predisposition to a pathology: in most cases giperstenichesky dysplasia occurs in relatives.

The characteristic manifestations of the disease

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The gradual replacement of dense bones bone marrow (the substance contained within the bones and is involved in blood formation) leads to the development of thrombocytopenia, anemia, hematopoietic processes outside the bone marrow – in the liver, lymph nodes, spleen, resulting in their increase.

The main symptoms marble disease include high density and concurrent fragility of bones, susceptibility to fractures (most often there are fractures of the femur).

The most common signs of disease are:

  • enlargement of the liver, spleen, lymph nodes;
  • hypochromic anemia;
  • hydrocephalus;
  • violation of visual functions up to blindness (caused by compression of the optic nerve).

The signs of the disease at all stages of development

At the time of development of pathology osteopetrosis is classified into two forms:

  1. Marble early form of the disease develops in children, characterized by a malignant course, and often ends in death.
  2. The latter form is noted in adulthood, milder, usually asymptomatic, diagnosed by the results of x-ray studies.

With early form osteopetrosis marked pain in the legs when walking and physical exertion – fatigue. More likely to have bone deformation.

The child at the initial examination may include the following violations:

  • pallor of the skin;
  • low growth (below normal for a particular age);
  • the gap in physical or mental development;
  • problems with teeth – delayed eruption and growth, extensive destruction of caries;
  • deformation of bones: the femur, facial/cerebral part of the skull.

The appearance of the affected bone in the early stages of congenital osteosclerosis remains unchanged. As the progression and worsening of the pathological process manifested deformation.

Bones become brittle, prone to fractures (bones can break even from its own weight).

However, the periosteum with the disease is not destroyed, so the Union of bones is proceeding normally.

Details about what is a lethal osteopetrosis or marble look at the video:

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Diagnostic measures

For the production and refinement of diagnosis using the following methods:

  • General analysis of blood allows to establish the presence of anemia often accompanies marble bone disease;
  • biochemical analysis of blood is carried out to determine the blood levels of ions of calcium and phosphorus (low concentration to a violation of the processes of bone resorption);
  • x – ray at osteopetroses dense bone to x-rays is almost opaque in the photograph are dark spots in some parts of the bones can be visible cross enlightenment, the medullar canal in the picture is missing;
  • magnetic resonance imaging and computed tomography – allows us to consider the bone in layers and to ascertain the extent of destruction of bone tissue.

Along with the diagnostic methods of gathering case histories of the patient and his close relatives. May require a medical examination of some of the family members.

The only chance for salvation — transplantation

Bone marrow transplantation – surgical technique that gives the best results in the treatment osteopetrosis. Other effective methods of treatment of congenital abnormalities to date does not exist.

Secondary therapy is an outpatient procedure aimed at strengthening the neuro-muscular tissue, which in this case is to protect the bones.

The patient is prescribed physiotherapy, massage, swimming. Of great importance is proper nutrition with a predominance in the diet of cottage cheese, fresh vegetables and fruits, foods high in protein.

Of the beverage is preferably consumed fresh vegetable and fruit juices. It is recommended that periodic recuperation in sanatorium-resort conditions.

The complex of therapeutic measures allows to suspend the progression of the disease, but does not restore the normal processes of bone formation.

Preventive measures

High risk of developing osteopetrosis the infant in the presence of relatives with this disorder.

To determine the disease in the fetus used methods of prenatal diagnostics that can identify deadly marble on the stages of pregnancy from 8 weeks. Rather, it is not a measure of prevention, and action, allowing spouses to make an informed decision.

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To prevent pathological changes in the bone tissue is impossible. Can only partially prevent fractures and bone deformation by Wellness services (swimming, gymnastics) and proper nutrition.

Is there a chance?

An early form of the disease is characterized by a high percentage of infant mortality.

The only method that gives positive results of treatment is bone marrow transplantation.

However, to fully assess the advantages, disadvantages and consequences of surgical treatment is not possible, because the method is still under research.

Summing up, we can highlight the following points:

  • osteopetrosis development is affected by heredity: a genetic predisposition is a major risk factor;
  • the disease is accompanied by metabolic disorders of calcium, phosphorus, protein, which leads to pathological disorders of the processes of bone resorption;
  • bright much symptoms osteopetrosis occur in children with an early form of disease;
  • the development of disease Albers-Schoenberg in adulthood, symptoms are usually absent, and the pathological process is revealed by x-ray study;
  • the only effective but relatively unknown treatment method is a bone marrow transplant.