Brittle Bone Disease Health Video

Brittle bone disease, or osteogenesis imperfecta, is a genetic bone disorder wherein sufferers lack proper proteins to make healthy bones. Learn about brittle bone disease, including treatments, in this video.

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Do not smoke
Maintain a healthy diet
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About this Author

Dr. Susan McGladdery is a medical graduate from Oxford University in the UK and has a Master's Degree in Medical Sciences from Cambridge University. She has been a member of the Royal College of Physicians since 1991 and a member of the American Academy of Urgent Care since 2006. She trained as a Family Physician in the UK in Oxford and then in London. In a medical career that spans over 20 years, she has worked as a doctor in 5 countries on 3 continents and cared for patients from a multitude of different nationalities and backgrounds. Dr. McGladdery joined FirstMed Centers in mid 2002 and became Regional Medical Director in 2003.

DR. SUSAN L. MCGLADDERY: Hello, my name is Dr. Sue McGladdery. I'm the Medical Director from FirstMed Centers in Budapest, Hungary and I'd like to give you some information about brittle bone disease. The other name for this condition is osteogenesis imperfecta. It's a genetic disorder that causes abnormalities in collagen production that results in weak bones. Collagen is the main protein in bone and it's essential for bone strength. Osteogenesis imperfecta or brittle bone disease is the most common disease that causes fractures in childhood. How common are fractures? Well, some children may be born with fractures that have taken place while they're developing in the womb. Others have their first fractures soon after birth or several years later. However, in mild cases, some people have so few fractures that the disease isn't noticed and only picked up in later life. There are some other clinical problems that can occur with brittle bone disease in addition to fractures, there may be problems in other parts of the body due to defects in the collagen; for example, the joints may be lax, so weak. The whites of the eye may be blue or gray in color. The teeth may be discolored and more fragile than usual and then, maybe an increased tendency to bruising. Deafness may also occur and approximately 50% start experiencing some hearing loss as young adults. How is brittle bone disease transmitted? It's an inherited condition in some cases in the mild form and it passes from generation to generation within a family. The severe cases though are usually occurring in isolation and it's thought that they are the results of a new genetic mutation. How is this condition diagnosed? Diagnosis may be very difficult and is usually reached on the basis of a particular pattern of fractures and some other signs. What sort of treatment can we give for this condition? Well, it's important to get good care from a traumatologist in the event of any injury. If you do have brittle bone disease, you need to try and keep your bones as strong as possible so you should keep mobile, avoid smoking, and try and follow a healthy diet and lifestyle.