Osteopetrosis

Also known as: stone bone, marble bone disease, Albers-Schönberg disease

What is osteopetrosis?

To understand Osteopetrosis, we should think of bone health as a constant dynamic process in which bone builds up, forms, and the extra bone is brushed out by our body in a daily basis. This rare disorder keeps building up bone without the ability to remove the excess. Therefore people with the condition have bones that are very dense and more likely to fracture than normal bones.


What causes osteopetrosis?

Osteopetrosis is caused by varies genetic mutations that ultimately affects bone cells in charge of removing the bone excess. The genes mutations can be passed along from parents to their children.


What are the symptoms of osteopetrosis?

People with osteopetrosis may experience fractures from minor bumps or falls. They also may have curvature of the spine, arthritis or bone infections. Some people may also experience severe hearing and vision problems, nerve problems, paralysis, infections and other complications related to the problems with the bones.


What are osteopetrosis care options?

Stem cell transplantation is the only curative option for patients with some specific mutations that caused osteopetrosis. The success is directly related to the early intervention in life in such cases. Other cases of osteopetrosis can be treated with supportive means that include good nutrition, vitamin supplements, taking care to avoid accidents and other measures.

Sources:
rarediseases.info.nih.gov
ghr.nlm.nih.gov
rarediseases.org
 


Reviewed by: Dr. Jorge Ricardo Galvez Silva

This page was last updated on: 6/21/2019 2:26:55 AM