What does osteopetrosis mean?
Osteopetrosis is a rare disorder that causes bones to grow abnormally and become overly dense. When bones become overly dense, they are brittle and can fracture (break) easily. In addition, bones may be misshapen and large, causing other problems in the body.
What is the difference between osteoporosis and osteopetrosis?
Osteoporosis, a common bone disease which generally affects the elderly, and osteopetrosis, a much rarer disease which appears early in life, share features of defective osteoclast activity, abnormal osteoblast activity, increased tendency to fracture, and altered bone mechanical properties.
What is the cause of osteopetrosis?
The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown. The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts.
Can osteopetrosis be cured?
At present, the only established cure for autosomal recessive malignant infantile osteopetrosis is hematopoietic stem cell transplantation (HSCT) for specific cases. This allows the restoration of bone resorption by donor-derived osteoclasts.
What happens if you have osteopetrosis?
Overview. Osteoporosis causes bones to become weak and brittle — so brittle that a fall or even mild stresses such as bending over or coughing can cause a fracture. Osteoporosis-related fractures most commonly occur in the hip, wrist or spine.
What are the symptoms of osteopetrosis?
Autosomal Dominant Osteopetrosis (ADO) Some people may not have any noticeable symptoms. Adults with osteopetrosis who develop symptoms may have frequent bone fractures that don’t heal well. Bone infections (osteomyelitis), pain, degenerative arthritis, and headaches may also occur.
When does osteopetrosis occur?
The condition occurs when both parents have an abnormal gene that is passed to the child (called autosomal recessive inheritance). The parents do not have the disorder, even though they carry the gene. Each child they have has a 1 in 4 chance of being born with ARO.
Who is most likely to get osteopetrosis?
Osteoporosis affects men and women of all races. But white and Asian women, especially older women who are past menopause, are at highest risk.
Is osteopetrosis life threatening?
Osteopetrosis congenita results in bone marrow failure and is almost always fatal. Marble bone disease causes short stature, cerebral calcification and mental retardation.
Is osteopetrosis fatal?
Osteopetrosis tarda is usually discovered accidentally on routine radiographs and is often asymptomatic; however, patients may present because of related degenerative joint disease. Osteopetrosis congenita results in bone marrow failure and is almost always fatal.
Where is osteopetrosis found in the body?
Osteopetrosis is a bone disease that causes bones to be too dense, and this abnormality can lead to easily broken bones. Osteopetrosis causes special bone cells called osteoclasts to function abnormally.