Brittle bone disease is a genetic disorder that gives you fragile bones. It is caused by an abnormality in the genes that produce collagen. Collagen is an important protein in your bones that keeps them strong. People with brittle bone disease have poor quality collagen so their bones are weak and they  break easily.

What causes brittle bone disease and who can get it?

Brittle bone disease is present from the time you are conceived in the womb. You are born with it and it does not develop later. Although you may not realise you have it until some years after you are born if the condition is not very severe.

It is a genetic disorder that is passed down from your parents. Although in some cases, usually when you have very bad brittle bone disease, it is because of a new genetic mutation.

This is when a change in your genes happens randomly for no reason at all and is not passed down from your parents. You are then the first person in your family to have the condition, but you may pass it on to your children.

Brittle bone disease affects girls and boys.

What are the signs and symptoms of brittle bone disease?

The main symptom of brittle bone disease are broken bones, or fractures.

Some babies with severe brittle bone disease are born with fractures that have taken place in the womb or during delivery. Others have their first fracture soon after they are born.

Usually young people with brittle bone disease break bones very easily. Just falling over can cause a fracture. Thankfully, although bones break very easily they also mend easily.

The amount of fractures you get and how often they happen varies. Some young people with brittle bone disease don’t break any bones when they are children and are not properly diagnosed for years.

The risk of breaking bones becomes less as you get older. It is not known why.

Besides fractures people with brittle bone disease can have problems in other parts of their body where collagen also exists:

• Loose joints/ligaments
• Blue or grey colour of the ‘white’ of the eye – the sclera.
• Discoloured or fragile teeth
• Lots of bruises
• Deafness, from fractures of bones in the ear.
• Hernias
• Excessive sweating

How is it normally diagnosed?

The diagnosis is made by your doctor from how many broken bones you’ve had. He or she will also look at other symptoms such as blue or grey whites of the eyes.

Sometimes someone with brittle bone disease will have none of these symptoms and diagnosis can be very difficult.

X-rays <http://www.childrenfirst.nhs.uk/teens/hospital/treatment/x-ray.html> can sometimes show up old fractures or changes in the bone structure that suggest the condition. But most of the time X-rays and even bone density scans are surprisingly normal.

Genetic studies on skin samples (biopsies) can sometimes help confirm brittle bone disease. But a ‘negative’ test does not rule the condition out it just means you might have an unusual genetic change that has not been found before.

What treatment can be given?

Treatment is mostly good orthopaedic care when you get a fracture. Orthopaedics is the study of bones. Doctors who operate on your bones are called orthopaedic surgeons.

It is important that each fracture you get heals in a good position. You should also start moving around as soon as possible. This is so you make a full recovery and keep your bone and muscle strength as strong as possible.

Sometimes 'rodding' operations are done on young people that get a lot of fractures. This is when thin metal rods are inserted into weak bones to help to hold them together and stop them from breaking.

New drug treatments are tried in some patients with brittle bone disease. This is to see if the treatment will reduce the number of fractures you have. Not all patients can have drug treatment. Your doctor will talk to you about whether or not treatment would be ok for you.

Will I go deaf?

About 50 per cent of young people with brittle bone disease suffer from hearing loss. This is not necessarily total deafness.

It usually comes on in your late teens. It is because of problems in the small bones of your middle ear that help you to hear. If they get fractured sounds are not transmitted properly.

Hearing loss is usually treated with a hearing aid that helps your ear to process sound.

Looking forward

Young people with brittle bone disease can lead a perfectly normal life but it does depend on the severity of your disease.

Many rough contact sports, such as rugby or football. Or sports where there is a high risk of falling such as trampolining might need to be avoided. This depends on how easily your bones break.

If your condition is mild, it may be simply a matter of being a bit more careful not to fall over or injure yourself.

You may be sent to see an occupational therapist who will assess how well you can live your daily life with brittle bones. They can suggest things to make your life easier. Sometimes small changes, such as putting soft padding on the sharp corners of furniture, can help a lot.

For more help and information

Brittle Bone Society

Last reviewed by Great Ormond Street Hospital: 29 September 2007

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