Diagnosis of Osteopetrosis

Doctors diagnose osteopetrosis by:

• Taking a family and medical history.
• Performing an exam.
• Ordering laboratory tests and imaging studies.

Your doctor may order one or more of the following tests to diagnose osteopetrosis:

• X-rays to evaluate bone structure, including dense and misshapen bones.
• Genetic testing to help determine the specific cause and type of osteopetrosis.
• Blood tests to check:
  • Blood cell counts.
  • Vitamin and mineral levels.
  • Certain hormone levels.
• Computerized axial tomography (CAT) scans and magnetic resonance imaging (MRI) to evaluate changes in bone marrow space and skull.

Treatment of Osteopetrosis

Knowing the type of osteopetrosis helps doctors treat the symptoms and problems from the disease. Genetic testing allows doctors to examine specific changes in the genes so treatment can be tailored depending on the cause and expected severity of the disease. Treatments can include:

• Interferon gamma-1b is an injected drug designed to delay disease progression and is the only therapy specifically approved by the U.S. Food and Drug Administration (FDA) for the severe infantile form of the disease. It is not currently approved for the treatment of the noninfantile form of osteopetrosis and does not appear to help in adults.
• Corticosteroids may help improve some blood cell levels. Because they are potent drugs, your doctor will prescribe the lowest dose possible to achieve the desired benefit.
• Physical and occupational therapy can help children develop motor and other skills.
• Bone care may include casts, splints, or surgery to correct fractures and misshapen bones.
• Bone marrow transplant may be recommended for infants with the severe form of the disease and for people with bone marrow failure. Doctors will recommend this type of treatment on a case-by-case basis after reviewing the risks and benefits. Bone marrow transplant can cure the disease for certain people, but it cannot reverse damage that has already occurred.

Regular visits with the doctor are important to check symptoms and laboratory testing results, and to discuss potential treatments.

Who Treats Osteopetrosis?

Several different types of doctors diagnose and treat osteopetrosis. Often, people work with a team of doctors to provide the best treatment. These doctors may include:

• Endocrinologists, who treat hormonal and metabolic disorders.
• Dentists, who can help prevent dental problems and treat issues, including orthodontists and oral-maxillofacial surgeons.
• Geneticists, who study genes, especially how they are inherited and mutate.
• Hematologists, who specialize in blood disorders and bone marrow failure.
• Neurologists, who treat disorders and diseases of the spine, brain, and nerves.
• Neurosurgeons, who perform surgery for disorders and diseases of spine, brain, and nerves.
• Ophthalmologists, who treat disorders and diseases of the eye.
• Orthopaedists, who treat and perform surgery for bone and joint diseases.
• Otolaryngologists, who treat ear, nose, and throat disorders.