Treatment
Interferon gamma-1b (Actimmune) is the only drug approved by the United States Food and Drug Administration (FDA) to treat osteopetrosis. Injections delay the progress of severe osteopetrosis in both children and adults.
Bone marrow transplantation (BMT) is the only therapy that can completely cure severe malignant infantile osteopetrosis. It replaces the abnormal osteoclasts with normal cells. The survival rate for children with osteopetrosis who undergo BMT is 40 to 70 percent. Because of the high risk of death, this procedure is done only with the most severely affected children where a good bone marrow match can be found.
High doses of calcitriol, an active form of vitamin D, can stimulate osteoclasts responsible for disintegration of old bone and significantly alleviate symptoms of severe disease in some individuals.
When bone overgrowth deforms the shape of the skull, surgery may be required to relieve pressure on the brain. Orthodontic treatment is sometimes necessary to correct malocclusion, a condition that shifts the position of the teeth and makes closing the mouth impossible.
Physical and occupational therapy can help children reach their full potential and adults to retain function and independence. Speech therapy is often needed in young children, because the heavy skeleton can cause language delays even in children of normal intelligence. Professional counseling can help children and their families cope with the emotional aspects of deformed features.
