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Osteopetrosis: Treatment, Procedure, Cost and Side Effects

Last Updated: Jul 20, 2024

What is the treatment?

Marble bone disease, Albers- Schonberg disease, Osteosclerosis Fragilis Generaslisata.

How is the treatment done?

Osteopetrosis is a disorder where the bones become denser and the bones harden. It is an inherited condition. Unlike osteoporosis or osteomalacia where the bones become soft and brittle, Osteopetrosis causes the bones to dissolve faster and break. This disorder is caused due to the malfunctioning osteoclasts where it doesn’t resorb bone. Normally, the bone growth of a healthy person is achieved by a balance between breakdown of the bone matrix (bone resorption) and bone formation. In Osteopetrosis patients, the number of osteoclasts are greatly reduced, increased or normal.the dysfunction of the osteoclasts is the major cause of this disease. Osteopetrosis can have a lot of symptoms such as stunted growth, recurrent infections, anaemia, deafness (due to too much pressure on the nerve by extra bones), facial paralysis, blindness, bone pain, cranial nerve paralysis, craniosynostosis and hearing impairment.

Osteopetrosis can be inherited as a recessive or dominant trait and is characterized by skeletal abnormalities, brittle bones and increased bone density. People who have Osteopetrosis can experience bone fractures due to bone abnormalities. There are three kinds of Osteopetrosis, which is adult form, intermediate form and malignant infantile form. The intermediate form is commin in children who are younger than ten years old. The adult form is quite mild and might be diagnosed in adulthood or adolescence. The malignant infantile form shortens life expectancy and is evident from birth. The drug, Interferon Gamma- 1b (Actimmune) is used for the treatment of Osteopetrosis. It doesn’t cure this disease but halts the progression of it.

Who is eligible for the treatment? (When is the treatment done?)

Firstly diagnosis of Osteopetrosis has to be made through a variety of x-ray tests, specialized tests, detailed patient history and clinical evaluation. The diagnosis of this disorder can easily be confirmed by the presence of symptoms such as vision impairment and by bone testing. The drug, Interferon Gamma-1b (Actimmune) has been approved by the U.S Food and Drug Administration to stop the progression of this disorder. Patients who have severe malignant Osteopetrosis can rely on this drug, as it delays the progression of the disorder. This drug is also helpful in the managing chronic granulomatous disease. It is marketed and produced and developed by Genentech, by using DNA technology. People suffering from Osteopetrosis keep having recurrent infections, by taking Interferon Gamma-1b (Actimmune) in high doses, these patients had less severe and fewer infections. Life is already hard for people living with this disorder, having access to this medicine, reduced the severity of osteopetrosis symptoms and restores them. Day to day existence becomes easy for these patients. Inferton gamma is a protein produced in the body naturally with the help of white blood cells to reduce the severity and frequency of infections caused due to fungi or bacteria. Since the immune system of these patients is dysfunctional, they have an impaired ability to defend themselves against this infection. Around eight to forty kids in the United States are born with malignant osteopetrosis each year. Adult osteopetrosis affects 1,250 individuals in the U.S.

Who is not eligible for the treatment?

Sometimes, Interferon Gamma-1b (Actimmune) can also cause severe rash, so it is recommended to test for allergies before continuing with this treatment. If you are pregnant or nursing, you should be careful before taking this drug. Patients with neurological disorders, history of seizures or heart failure should consult a doctor before administering this drug. The doctor usually monitors cells with blood tests at the starting of this therapy and then again at 3-months interval.


Are there any side effects?

If you are allergic to inferno-gamma or E.coli-derived substances then you shouldn’t use this medicine. However, this drug should be taken only with a doctor’s recommendation. Tests will be performed to know if you are allergic to any ingredient used in the product. Certain drugs can interact with Interferon Gamma-1b (Actimmune) and increase your susceptibility to the damage of your nervous system and heart. These drugs usually include chemotherapy medicines. It is advisable to restrict taking Actimmune during the same time as vaccination.

What are the post-treatment guidelines?

Interferon Gamma-1b (Actimmune) has some common side effects and causes flu-like signs such as fatigue, muscle pain, chills, headache and fever. However, the severity decreases as the treatment with this drug continues. Taking this medication before bedtime can help to reduce some symptoms to a certain extent. If the side effects keep increasing and becomes unbearable, it is recommended to consume acetaminophen to prevent headaches and fever. Interferon Gamma-1b (Actimmune) has also been known to worsen existing heart conditions. If it is consumed in high doses, then it causes dizziness, walking disturbances and decreased mental status. These symptoms are however reversible in a few days. Production of important cells can also be decreased and bone marrow functions can be altered due to the consumption of this drug.

How long does it take to recover?

Interferon Gamma-1b (Actimmune) should be consumed only by a doctor’s recommendation, high dosage is not advisable. It should be continued only for a stipulated period of time as instructed by your doctor, consuming it for a long time can cause unwanted side effects. This drug is injected under your skin and each vial of the medicine is strictly for one time use only. During the course of the treatment, frequent kidney function tests and blood tests are performed. The medicine can be stored in the refrigerator but should be kept out in room temperature before injecting it.

What is the price of the treatment in India?

Interferon Gamma-1b (Actimmune) helps to treat blood disorders, weak immune system, bone fractures, issues with hearing or vision and disfiguration of the skeletal system. Consuming this drug assists in the long run to reduce the symptoms of osteopetrosis. However, this drug doesn’t guarantee the treatment of this disease, it only helps to reduce the symptoms.

Are the results of the treatment permanent?

The price of the treatment in India is approximately Rs.12,000 to Rs.14,000.

What are the alternatives to the treatment?

This treatment does not cure osteopetrosis from the root, but is helpful to reduce the symptoms of this disease. It also stops the progression of this disease in both men and women.


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Written ByDr. Kailash Kothari MD - Anaesthesiology,MBBSOrthopaedics
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