University of Minnesota Masonic Children’s Hospital cares for the majority of patients with the most severe forms of osteopetrosis, who are seeking Blood and Marrow Transplant (BMT) for therapy. The care provided is individually tailored to meet the unique needs of each patient and family. Our team of expert health care providers who specialize in osteopetrosis applies leading-edge research developed by University of Minnesota scientists.
Osteopetrosis is an inherited disorder that makes bones abnormally dense and prone to breakage (fracture). Individuals with the disorder don’t have functioning osteoclasts, cells which help maintain healthy bone and cell production. There are two types of osteopetrosis: autosomal dominant and autosomal recessive (or infantile). The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
In the most common type of osteopetrosis we treat, infantile recessive, the bone marrow space within the bone is markedly reduced, which limits the production of new blood cells. This can cause anemia (low numbers of red blood cells), thrombocytopenia (decreased platelets) which leads to easy bleeding and low white blood cell counts which increases the risk of infections. If left untreated, these factors can result in the death in the first few years of life.
Other complications, like enlargement of the liver and spleen, also result from severe osteopetrosis. Overgrowth of bone may also occur and can result in limited space for nerves and blood vessels to pass through the skull. The constriction of these nerves and their blood vessels can affect their function, which can result in loss of vision or hearing in infancy for severely affected children.
Most children with severe osteopetrosis will develop life-threatening complications related to difficulties in the production of blood cells. Some children with osteopetrosis have developmental delays. Some develop increased pressure on the brain because of interruption of the normal flow of spinal fluid from the brain to the spinal cord.
Osteopetrosis affects 1 in 300,000 individuals.
If your child comes to us with a diagnosis of severe (infantile) osteopetrosis, the first step would be to assess the severity of the disorder, and evaluate whether or not BMT is a good treatment option.
Blood and Marrow Transplantation
For patients who are good candidates, BMT is the only therapy that can correct the blood-related problems and bone abnormalities in people with osteopetrosis. If successful donor blood stem cell engraftment occurs, the normal donor blood cells are able to provide normal osteoclast function. Therefore, these cells are able to provide a normal marrow "space" for the making of healthy blood cells. Because the risk of transplant is high, transplant is only used in patients who are seriously affected by osteopetrosis.
Patients who are candidates for BMT will begin preparations for transplant. Patients and their families meet with many members of our transplant team, along with other specialists within the areas of endocrinology, genetics, neurology, neuropsychology and physical and occupational therapy.
We have the most experience treating patients with osteopetrosis, and continue to modify and improve the transplant process, providing better outcomes and better prognosis for the young patients in our care.
Learn more about what to expect during the transplant process.
While our entire blood and marrow transplant team is involved in the care of our patients, Dr. Paul Orchard is an internationally-recognized leader, and leads the care and treatment plans for patients with osteopetrosis:
We continue to explore new ways to effectively treat and improve quality of life for patients with osteopetrosis. We also collaborate with other researchers throughout the world, keeping our program at the forefront of osteopetrosis care worldwide. Learn more about current research projects here.
Osteopetrosis transplant patients may be eligible for clinical trials, taking advantage of the latest breakthroughs in therapies and treatments. View a list of open trials.