Ways To Treat Osteopetrosis

Osteopetrosis is an inherited bone disease that causes the bones to become too dense. Symptoms can range in severity from mild to life-threatening. Bone contains specialized cells known as osteoclasts, which are responsible for the breakdown of old bone so new, healthy bone can replace it. Individuals with osteopetrosis have a malfunction in their osteoclasts that causes them to fail to break down old bone. The bones overgrow and thicken, and become unstable and easily broken. This overgrowth can put pressure on nerves and can even crowd out the bone's marrow, where vital blood cells are formed. Osteopetrosis can be treated, but it can't be cured. Learn about the treatment methods now.

Bone Marrow Transplant

This is one possible treatment for osteopetrosis in children. It's usually used for the malignant infantile type of the disease, which is the most severe form.

The center of the bones contains marrow, a soft, spongy substance that produces blood cells responsible for such things as immune system support. When osteopetrosis causes such bone thickening that the normal marrow space is severely reduced, healthy blood cells can no longer be made. A bone marrow transplant is a risky procedure and thus is reserved only for those whose bone marrow is all but non-functional. However, if the donor marrow cells successfully repopulate the patient's marrow, they will likely have full bone marrow function again. A bone marrow transplant can also be performed with the patient's stem cells. These are collected beforehand. Before the procedure, the patient's remaining marrow is destroyed with chemotherapy and radiation. Then the donor or stem cells are infused back into the patient, where they settle in the marrow and hopefully begin to grow.

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Nutritional Support

Nutritional support is critical for those with osteopetrosis. This may include calcium and vitamin D supplements, particularly if the patient has low blood calcium. Vitamin D is necessary for the body's proper use of calcium. Vitamin D also stimulates osteoclasts to break down old bone more efficiently. Some patients may benefit from restricted calcium intake along with vitamin D therapy.

Children should consume a healthy diet low in processed foods and sugar. Since osteopetrosis can interfere with growth in children, it's important they receive adequate vitamins and minerals, especially iron. Children with this condition are often anemic. Proper nutrition will help support the body overall. A children's vitamin may be helpful, along with nutritional drinks that provide extra protein and other nutrients.

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Physical Therapy

Physical therapy uses exercise, massage, hydrotherapy, and heat treatments to ease pain and improve function for many types of diseases. For children with osteopetrosis, it can help to improve motor function and control, and it can ease the pain for both children and adults. The objective of this type of therapy is to relieve pain and normalize function as much as possible. In both children and adults, osteopetrosis can interfere with the ability to perform daily tasks. A related type of therapy called occupational therapy can help patients find alternate ways to accomplish basic daily tasks in spite of the limitations caused by osteopetrosis.

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Surgical Intervention

The thickening of the bone caused by osteopetrosis can result in fractures, especially of the femur. This is because the thicker bone is also brittle and not supportive, meaning it can break even from the slightest trauma. The femur, or thighbone, bears a great deal of the body's weight, so it's not surprising fractures from this disease most often occur there. Some fractures will heal on their own, while others will require a splint or cast. However, sometimes a fracture is so serious it requires surgery. This is especially true when a bone has broken up into pieces, known as a comminuted fracture. Another type that will always require surgery is the compound fracture, which is where a piece of bone protrudes through the skin. If a bone affected by this disease fractures, it may require surgical intervention to preserve any normal function.

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Observational Approach

The severity of osteopetrosis is determined by how it was passed down through the genes. Of the several forms of this condition, only the malignant infantile type will always require treatment. Children can suffer from severe symptoms like water in the brain, retinal damage, hearing loss, and bone marrow malfunction, which require medical intervention and management.

Adult-onset forms of osteopetrosis are often mild and require no treatment at all and some patients may show no outward symptoms. In this case, they may choose an observational approach to treatment. Some adults may have such symptoms as mild anemia, rhinitis, and an enlarged liver and spleen. These conditions do not necessarily need immediate or aggressive treatment, so doctors often employ the observational approach. They can be observed by medical professionals over a period to see if they progress or not. If the disease progresses, it can be symptomatically treated at that time.