Brittle bone disease or brittle bone syndrome is a genetic disorder that sufferers are born with. It is the most common reason for bone fractures in young children. Those who have brittle bone disease produce collagen of poor quality, causing the bones to be very fragile and weak. Those who have brittle bone syndrome can have fractures that are caused without any serious trauma. It is also very common for the same bone to break multiple times, and each time it breaks, it heals in a less than perfect way, meaning it can also cause deformities.
What are the Symptoms and Types of Brittle Bone Disease?
There are four types of brittle bone disease, type I being the mildest form.
• Type I brittle bone disease in children can cause children to appear clumsy and tire quickly. In adults, fractures are more common.
• Type II is the most severe form of brittle bone disease. Most babies only survive for a few months, as their rib cage usually causes the lungs to form improperly.
• With Type III brittle bone syndrome, children will have recurrent fractures and may need adapted chairs. Adults may have issues with their rib cage and ligaments.
• In type IV brittle bone disease, most patients are not diagnosed until much later in life, as other conditions may be suspected first. In adults, there may be issues with bending the longer bones, such as the legs.
What is the Outlook for Brittle Bone Disease?
Brittle bone disease is a genetic condition and there is no cure available other than treatment and management through physiotherapy and occupational therapy. Surgery is also regularly required to mend broken bones and fractures that did not heal perfectly. In Type II brittle bone syndrome, death usually follows quite quickly.
In the past few years, a condition known as temporary brittle bone disease has also emerged. With this condition, it seems that it is only present in young children and apparently heals itself over time. It is particularly common in identical twins. However, much research still needs to be done in this field and those who have been diagnosed with it generally continue to be seen by specialists for the rest of their lives.
Brittle bone disease is a very sad condition for both those who suffer from it, as well as their carers. There is no known cure, other than careful management, and long term effects including being wheelchair bound and deafness.