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(Q78.2) Osteopetrosis
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153 430 in individuals diagnosis osteopetrosis confirmed
2 369 deaths with diagnosis osteopetrosis
2% mortality rate associated with the disease osteopetrosis
Diagnosis osteopetrosis is diagnosed Men are 15.04% more likely than Women
88 252
Men receive the diagnosis osteopetrosis
1 500 (1.7 %)Died from this diagnosis.
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65 178
Women receive the diagnosis osteopetrosis
869 (1.3 %)Died from this diagnosis.
Risk Group for the Disease osteopetrosis - Men aged 10-14 and Women aged 5-9
In Men diagnosis is most often set at age 0-79
Less common in men the disease occurs at Age 80-95+Less common in women the disease occurs at Age 75-84, 90-95+
In Women diagnosis is most often set at age 0-74, 85-89
Disease Features osteopetrosis
Absence or low individual and public risk
Osteopetrosis - what does this mean
Osteopetrosis is a rare genetic disorder that is caused by a mutation in a gene that affects bone formation. it results in bones that are abnormally dense and thick, leading to fractures, deformities, and other skeletal abnormalities. it can also affect other organs, such as the spleen, liver, and bone marrow.
What happens during the disease - osteopetrosis
Osteopetrosis is a rare genetic disorder characterized by an increase in bone density due to a defect in the osteoclastic activity of bone resorption. this defect causes the bones to become abnormally dense, leading to a decrease in the size of the marrow cavity, resulting in a decrease in the production of red and white blood cells, which can lead to anemia, infection, and other complications.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- X-ray imaging
- CT scan
- Bone biopsy
- Blood tests
- Bone marrow tests
- Genetic testing
Treatment and Medical Assistance
Main Goal: To reduce the severity of symptoms and improve the patient's quality of life.
- Maintaining a healthy diet
- Regular exercise
- Medications to reduce bone pain
- Surgery to correct bone deformities
- Bone marrow transplant
- Stem cell therapy
- Physical therapy and rehabilitation
- Vitamin D and calcium supplements
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Osteopetrosis - Prevention
The best way to prevent osteopetrosis is to maintain a healthy lifestyle that includes a balanced diet, regular exercise, and limited alcohol consumption. additionally, getting regular check-ups and screenings can help detect the disease early and allow for early intervention.