A Family Guide to Non-Oncologic Blood Disorders
Osteopetrosis
What is osteopetrosis? Osteopetrosis is a rare, inherited syndrome in which the bones in the body become very dense. This results from an imbalance between the formation and breakdown of the bone. As a per- son grows and the body changes, the breakdown of bone is es- sential as new bone is formed. The imbalance occurs when the body does not break down bone, which leads to thick bones. There are three types of osteopetrosis: infantile, intermediate, and adult onset. Infantile is the most serious form of the disease with a poor prognosis requiring quick diagnosis and interventions to pre- vent symptom progression. A major concern is that the dense bones of the skull can put pressure on the nerves going to the face from the brain, leading to blindness and deafness. Dense bones also cause narrowing of the bone marrow, which affects the development of blood cells. What are some symptoms of osteopetrosis? The following are the most common symptoms of osteopetro- sis. However, each child may experience symptoms differently. Symptoms may include: • Dense bones
How is osteopetrosis diagnosed? • Skeletal X-rays • Complete medical and family history • Complete physical exam
• Presence of anemia • Genetic testing
What tests and procedures will my child need? • X-rays of long bones are needed to confirm the diagnosis • Blood tests including measuring complete blood count (CBC) to look at red blood cells, white blood cells, and platelets, blood calcium levels, and hormone levels • Possible bone biopsy How is osteopetrosis treated? Infantile osteopetrosis is treated with a hematopoietic stem cell transplant (HSCT). Your medical team will determine the best treatment plan for your child. How successful is the treatment? • Success of HSCT depends on severity of the disease at the time of the transplant. • Neurological symptoms such as blindness and deafness cannot be reversed. • If bone density has progressed and marrow cavities are crowded, engraftment (formation) of new bone marrow will be affected after HSCT. • Overall, early HSCT offers the best chance for limiting neurological effects and curing bone marrow failure. Stem Cell Transplant Indications HSCT is the only curative treatment for osteopetrosis. There- fore, a transplant should occur as soon as a suitable donor is identified.
• Bone fractures • Growth failure • Pain • Delayed tooth eruption and unusual dentition
• Bone marrow failure • Frequent infections • Nerve compression » » Blindness » » Stroke
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Osteopetrosis
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