Fibrous bone dysplasia is a rare, proliferative bone disease. It may affect only one or more bones and manifest only in pain. We still know little about the causes of its formation. In addition to pain, what is the symptom of fibrous bone dysplasia? Can we treat it effectively?
Fibrous bone dysplasiais a rare disease that makes it difficult to accurately determine its frequency. Among all benign bone tumors, it accounts for about 7 percent of them. There is no difference in the incidence of the disease depending on gender, race or place of residence. Changes may appear even before the age of 10 and persist throughout the time.
Fibrous dysplasia of bone: causes
The exact cause of bone fibrous dysplasia is still unknown. It is suspected that the disease is genetic, although the way the gene mutates is unknown.
In severe cases, the genetic changes that cause the disease also affect the function of the endocrine glands. If there are also coexisting café au lait spots, we diagnose McCune-Albright syndrome.
Many years of observations show that the mutation is not hereditary and the risk of its occurrence in children of sick parents is population-based. In patients, there is an abnormally structured protein responsible for the regulation of skeletal synthesis. In response to the defective protein, bone cells are on constant alert, which leads to the replacement of trabecular bone fragments with abnormal fibrous tissue.
Fibrous Dysplasia of Bones: Symptoms
Although abnormal cells continue to grow for years, the disease remains asymptomatic for a long time. The first symptom is pain in the affected areas, which gets worse with time, until at some point it occurs constantly. It is typical for discomfort to worsen when walking or jogging, and to lessen after resting.
The lesions can locate any bone in the human skeleton, but are most often found in the long bones of the lower limbs, ribs, humerus, pelvis, and skull. It also happens that the first symptom is a pathological bone fracture. Due to improper metabolism of bone tissue, the healing of such a fracture is difficult and occursdeformation. When the symptoms appear in older patients, they can be mistaken for age-specific degenerative changes. There are three clinical forms of fibrous bone dysplasia:
- monoostotic form- the disease affects only one bone and is the most common (70 percent); has the best prognosis, usually appears in adolescence and extincts after the end of bone growth
- polyostotic form- with at least two bones involved; it is found in about 25 percent of patients; has a worse prognosis, symptoms appear earlier, are more severe and the disease progresses faster
- character with endocrine disorders- occurs in children and can seriously damage the endocrine glands and cells responsible for the production of pigment; premature puberty, hyperthyroidism and adrenal cortex are observed
Fibrous dysplasia of bone: research
Usually the diagnosis is made on the basis of clinical symptoms combined with imaging tests, mainly X-ray, CT (computed tomography). If this is not enough, you can take slices from the bone where the changes have occurred.
Fibrous Dysplasia of Bones: Treatment
Since the clinical course of the disease can vary greatly, treatment should always be individual. A single outbreak with no fractures can only be observed. Pain relieving medications may be administered. In addition, bisphosphonates are used, which probably weaken the metabolism of pathological foci, and in many patients also reduce the severity of pain. In more severe cases, surgical intervention is necessary: removal of the pathological focus with a margin of he althy bone tissue or curettage of the pathological focus and performing either a transplant or stabilization with metal implants and bone cement.