The treatment for osteopetrosis, which is a congenital disease that causes the development of very dense and brittle bones, should be guided by a team of several health professionals, such as a pediatrician, an orthopedist, a hematologist, an endocrinologist and a physiotherapist. example.
Generally, the treatment of osteopetrosis varies according to the type of the disease and in the case of children with malignant osteopetrosis, the most effective treatment consists of bone marrow transplantation.
Learn more at: Bone Marrow Transplant.
However, other treatments that may be used in children and adults include:
- Injections with Interferon gamma-1b, which is a remedy capable of delaying the development of the disease;
- Intake of Calcitriol, which is an active form of vitamin D that helps stimulate bone cells to develop normally and reduce bone density;
- Intake of Prednisone, which is a cortisone-like hormone that can improve the production of the body's defense cells, which are produced in the bones;
- Physiotherapy sessions, as they improve the patient's physical capacity, helping to prevent bone fractures and improve independence in some daily activities.
The doctor may also advise consulting a dietitian to adapt the diet to include foods that help facilitate bone and body development, especially during childhood.
In addition, it is important to make regular consultations with the ophthalmologist, otolaryngologist and dentist to evaluate the development and possible appearance of some lesions or malformations in the eyes, teeth, nose, ears and throat, for example.
Diagnosis of osteopetrosis
The diagnosis of osteopetrosis can be made by an orthopedist through an x-ray to observe the density of the bones of the body.
However, to confirm the type and complications of osteopetrosis, the doctor may also ask for other diagnostic tests, such as CT or MRI scans to assess the presence of lesions in some organs such as eyes and ears.
Causes of osteopetrosis
Osteopetrosis is caused by defects in one or more genes responsible for the formation and development of osteoclasts, which are the cells that remove the old bone tissue and replace it with a new and healthy one.
Depending on the origin of the altered genes, the type of osteopetrosis may vary:
- Malignant infantile osteopetrosis : the child presents the disease from birth due to defects in the genes inherited from the father and the mother;
- Adult osteopetrosis: Osteopetrosis is only diagnosed in adolescence or adulthood, being caused by altered genes inherited from only the father or the mother.
In the case of adult osteopetrosis the alteration of the genes can also be provoked by a mutation, without having to inherit the alteration of the parents.
Symptoms of osteopetrosis
The main symptoms of osteopetrosis include:
- Frequent bone fractures;
- Blurry vision;
- Difficulty hearing;
- Recurrent infections of the teeth and gums;
- Decreased blood cells in blood tests.
These symptoms may vary according to the type of osteopetrosis of the patient, and the more symptoms are more severe in the malignant form of osteopetrosis.
