Osteopetrosis

There is little information in the medical literature about nutrition and dietary recommendations for people with osteopetrosis. We are not aware of any specific dietary guidelines that have been proposed.

Generally, nutritional support in childhood is important to improve growth. It also may enhance responsiveness to other treatments.^[1] A low-calcium and high-phosphate diet in conjunction with oral prednisone has led to improvement in anemia, thrombocytopenia, and bone density in a few patients.^[2] However, some people may need calcium if hypocalcemia or rickets becomes a problem. Vitamin D supplements may help by stimulating dormant osteoclasts, thus stimulating bone resorption.^[1]
  

Measures that may be taken to prevent signs and symptoms of osteopetrosis depend on the type of osteopetrosis a person has.

For people with autosomal recessive osteopetrosis, the most severe form, allogenic hematopoietic stem cell transplantation (HSCT) can cure the condition. Most signs and symptoms (bone sclerosis, bone marrow failure, and extramedullary hematopoiesis) can be prevented or reversed by HSCT. Secondary neurosensory impairments caused by nerve compression may be prevented by early HSCT, but not reversed when they are already present. The decision of whether a person is a candidate for HSCT is made on a case-by-case basis.

For people with autosomal dominant osteopetrosis, with onset usually in childhood or adulthood, good routine dental care and oral hygiene may help prevent osteomyelitis of the mandible (infection in the jaw bone).^[3]

People with personal questions about options for preventing symptoms or complications of osteopetrosis should speak with their health care professional.

Treatment for osteopetrosis depends on the specific symptoms present and the severity in each person. Therefore, treatment options must be evaluated on an individual basis.

Nutritional support is important to improve growth and it also enhances responsiveness to other treatment options. A calcium-deficient diet has been beneficial for some affected people.

Treatment is necessary for the infantile form:

• Vitamin D (calcitriol) appears to stimulate dormant osteoclasts, which stimulates bone resorption. Large doses of calcitriol with restricted calcium intake sometimes improves osteopetrosis dramatically, but the improvement seen with calcitrol is not sustained when therapy is stopped.
• Gamma interferon can have long-term benefits. It improves white blood cell function (leading to fewer infections), decreases bone volume, and increases bone marrow volume.
• Erythropoietin can be used for anemia, and corticosteroids  can be used for anemia and to stimulate bone resorption.^[1]

Bone marrow transplantation (BMT) markedly improves some cases of severe, infantile osteopetrosis associated with bone marrow failure, and offers the best chance of longer-term survival for individuals with this type.^[1][4]

In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures.

Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.^[1]

A number of specialists may be needed to treat people with osteopetrosis. Medical management (aside from transplant) is usually done by an endocrinologist who is comfortable with, and knowledgeable of, metabolic bone disease. People with osteopetrosis who have scoliosis should see a spine specialist who is familiar with the condition. An orthopedic surgeon familiar with osteopetrosis should manage treatment for fractures and other problems with the bones and joints. It is also important to see an ophthalmologist (eye doctor) or neuro-ophthalmologist to follow or treat vision changes or vision loss.^[5]

The OsteoPETrosis Society website provides the names of several experts and a physician referral list for people with osteopetrosis looking for doctors with knowledge of the condition.