What is Osteogenesis imperfecta?

While wishing you all the best in this period of festivities, permit me to ask about Osteogenesis Imperfecta. A friend of mine informed me that one of his sons is diagnosed with the problem.

Christy V.

Thank Christy for your question. Osteogenesis imperfecta also known as Brittle bone disease is a lifelong genetic disorder that causes the bones to break very easily, usually without any type of injury, as from a fall. It affects both sexes and all races equally.

What are the causes?

Brittle bone disease is passed down through families, or inherited. It is caused by a defect in a particular gene that is supposed to strengthen bones. If you don’t have enough of it, your bones become very weak and break easily.

Most children with brittle bone disease get this gene from only one parent, but it’s possible to get it from both. Sometimes a child doesn’t inherit the gene from either parent, but the gene mutation develops on its own.

What are the symptoms?

The main symptom of brittle bone disease is broken bones. They break very easily. Your child may have a bone break during a diaper change, or even when being burped. Someone with the condition may have only a few broken bones in a lifetime, or may have hundreds of them. Sometimes, babies are born with fractures or get them while growing in their mother’s womb. Other times, symptoms don’t appear until the teen years or later.

General symptoms of brittle bone disease may be mild or very severe. They include:

•          Broken bones (fractures)

•          Bleeding and easy bruising (frequent nosebleeds or heavy bleeding after an injury)

•          Blue color in the white part of the eyes

•          Bowing of the legs

•          Breathing problems

•          Brittle, discolored teeth

•          Curved spine (called Scoliosis)

•          Feeling very tired

•          Skin that is easily hurt

•          Hearing loss that starts in early adulthood

•          Can’t stand warm temperatures

•          Loose joints

•          Short height

•          Weak muscles and tissues

How to make a diagnosis?

•          If your baby is born with broken bones, the doctor can diagnose the condition with a physical examination.

•          Your doctor will examine your child and ask questions about your family and medical history.

•          Blood and urine tests will rule out other health conditions that can cause weak bones, such as rickets.

•          Genetic testing can confirm brittle bone disease. Genetic tests can also tell if you or your family members carry the gene.

What are the treatment options?

•          There is no cure for brittle bone disease, but treatment can relieve symptoms, prevent breakage of bones, and maximize movement.

•          Severe forms of the disease can affect the shape of the rib cage and spine, which can lead to life-threatening breathing problems. Some people may need to be on oxygen.

•          But in many other cases, people with this condition live a healthy, productive life with monitoring on a regular basis and the right treatment.

That treatment may include:

•          Splints and casts for broken bones

•          Braces for weak legs, ankles, knees, and wrists

•          Physical therapy to strengthen the body and improve movement

•          Medicine to make the bones stronger

•          Surgery to implant rods in the arms or legs

•          Special dental work, such as crowns, for brittle teeth

Other things that could be helpful:

•          Try to maintain a healthy weight.

•          Talk to the doctor or physical therapist about a safe exercise routine.

•          Eat a diet rich in vitamin D and calcium.

•          Avoid alcohol, or drink it only occasionally.

•          Cut back on caffeine.

•              Discuss the use of any steroid medications with your doctor. These drugs reduce bone density.

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