Marble disease: causes, symptoms, treatment, prevention

Marble disease is a congenital pathology, which is manifested by diffuse osteosclerosis of most of the bones of the skeleton and profound changes in calcium-phosphorus metabolism. This disease is extremely rare. For the first time it was described in 1904 by the German surgeon and radiologist Albers-Schonberg (Albers-Schonberg NE). Marble disease occurs in absolutely all age categories, in countries of all continents, equally in representatives of both sexes.

This disease has several synonyms - congenital osteosclerosis, osteopetrosis, hyperostatic dysplasia and Albers-Schoenberg's disease. Do not confuse the marble disease and the syndrome, called "marble skin". With marbling in the bones of the skeleton, an extra compact substance begins to be produced, and dense bone tissue begins to develop in the bone marrow canals . A marble skin is called congenital vasoneurosis of the skin vessels, which most often occurs in children, and manifests as reticular specks on the skin of bluish color after abrupt cooling. After warming, the symptom disappears. There is also a marble skin in adults with thin light skin, having problems with blood vessels.

The etiology of this disease is unknown. In most known cases, marble disease has a family character and is transmitted from generation to generation. The name of the marble disease is due to a special picture of X-ray images of the skeleton, on which the unusual homogeneity and sharp density of bones, as well as the lack of bone structure, are indicated. It seems that the bones are made of marble.

There are two forms of marble disease:

- flowing without visible clinical manifestations, diagnosed only with X-ray examination;

- manifested in early childhood, having pronounced symptoms.

The main sign of the disease is partial or continuous sclerosis of the spongy substance of the bones. At the initial stage of the disease, only tubular bones in the metaphysical area and flat bones in the peripheral areas are sclerotized. In addition, the uneven compaction of the cranial bones is revealed, the accessory cavities, especially the primary and frontal ones, are more affected. The jawbones are also affected, it is accompanied by a violation of the eruption and development of the teeth - their structure changes, roots are not sufficiently developed, the canals and cavities of the tooth are obliterated. The most common treatment for a doctor is pain in the limbs and increased fatigue when walking. Marble disease also adversely affects the development of the vascular system, because excessive pathological proliferation of bone tissue gradually displaces the hematopoietic tissue.

The best results of treatment of marble disease were obtained when trying to transplant (transplant) the bone marrow. Indeed, there is currently no effective therapy for this disease. The treatment of this pathology is mainly aimed at strengthening the muscular and nervous systems and is performed in most cases outpatiently. Patients are shown therapeutic exercises, massage and swimming. The food should be high-grade, rich in microelements and vitamins, there must be a cottage cheese, fresh fruits and vegetables, natural fruit and vegetable juices. Children with this diagnosis are periodically sent to a sanatorium-and-spa treatment.

The main methods of preventing marbling disease include perinatal diagnosis at the time of pregnancy of 8 weeks. To prevent deformation of bones and the occurrence of pathological fractures, it is necessary to conduct dynamic examinations in the orthopedist.