Diagnostics
Your doctor will determine whether it is a marble bone disease by asking specific questions about your symptoms, such as frequent poorly healing bone fractures, and by confirming the suspected diagnosis using imaging procedures such as X-rays of your skeletal system. This is because typical characteristics of marble bone disease can be identified in the imaging of the bone structure. The X-ray image is characterized by a visible three-layer structure of the vertebral bodies, the so-called sandwich vertebrae.
In addition, the images show a strong compression and hardening of the bone architecture. Another characteristic that has given the marble bone disease its name is the striation of the long tubular bones, such as the femur or humerus, which is typical in X-rays and makes it look marble-like. In addition, blood tests are performed.
Here, the reduced calcium concentration in the blood, which is characteristic of marble disease, and a drop in blood cells due to disturbed blood formation can be determined. Due to the weakened immune system, affected persons show up more often ill and weak. In rare cases, a so-called bone marrow puncture is performed under local anesthesia to assess the blood formation and spread of a disease in the bone.
Therapy and prognosis
A treatment of the triggering cause of marble bone disease is not yet possible. Symptomatically, glucocorticoids can be prescribed. They belong to the steroid hormones and fulfill various tasks in the area of our body.
Therapeutically, they are used here to inhibit inflammatory processes with medication. Furthermore, so-called interferons are used in marble bone disease. These proteins have protective functions in fast growing and proliferating tissue processes.
The therapy of first choice, which has become increasingly important primarily in recent years and can achieve a complete normalization of the bone structure, is bone marrow transplantation. The aim is a complete renewal and reconstruction of the diseased bone marrow with healthy donated haematopoietic stem cells. However, nerve failures that have already occurred, which have led to blindness, for example, cannot be repaired by this procedure.
