The medical term for brittle bone disease is osteogenesis imperfecta. There are primarily four types of this disease and all of them are hereditary, according to Merck Manuals. People with osteogenesis imperfecta may have very fragile bones, extremely flexible joints, hearing loss, dental abnormalities and whites of the eye, or sclera, that have a bluish tint. There are several treatments available for this disease.
Physical Therapy
Many people with osteogenesis imperfecta have minimal fractures and very little swelling of the soft tissues. Physicians can treat them with traction for a couple of weeks and then a cast. Afterward, physical therapy can start, especially if the fractures are painless, as explained in "Harrison's Principles of Internal Medicine."
Bisphosphonates
Normally, old bone in the body is broken down and at the same time new bone is being made. Bisphosphonates are a medication that manages both of these processes. Physicians prescribe them to decrease the amount of bone loss and the number of fractures. "Harrison's Principles of Internal Medicine" says that bisphosphonates are used to treat the moderate and severe forms of this disease. The long-term effects of using this medication are not yet understood. Alendronate and pamidronate are examples of bisphosphonates.
Growth Hormone
Children who have osteogenesis imperfecta types I and IV can use growth hormone as a treatment, according to Merck Manuals.
Type I is the mildest form of osteogenesis imperfecta. People with this form have blue sclerae of the eyes, instead of the normal white color. They may also have extremely flexible joints, muscle pain and reoccurring fractures.
Type IV is a moderate form of disease in which sufferers are short, have fractures and blue sclera in childhood, but white sclera as adults. The growth hormone is normally made by the anterior pituitary gland of the brain. It is used as a treatment because it increases the growth of children with this disease.
Stem Cells
"Harrison's Principles of Internal Medicine," documents a clinical trial in which four children with a severe form of the disease received bone marrow stem cells intravenously. The stem cells, called multipotential stromal cells, or MSC, travel to areas where there is injured tissue and repair the tissue by becoming osteoblasts---cells that build new bone. In the first part of the clinical trial, the children improved after they had a bone marrow transplant. In the second part of the clinical trial, they received the stem cells. The children further improved, but these improvements were temporary.
References
- "Harrison's Principles of Internal Medicine"; Anthony Fauci, M.D., Dennis Kasper, M.D., Dan Longo, M.D. et al.; 2008
- Merck Manuals: Osteogenesis Imperfecta
