What is Brittle Bone Disease? | Bluecrest Wellness
Brittle bone disease is a bone disorder that causes fragile bones. It is a genetic condition present from birth, although symptoms may not be immediately apparent. The condition will be life long and can range from mild to severe and can profoundly impact quality of life depending on the severity of the condition.
This article provides an overview of brittle bone disease, including its causes, common symptoms, diagnostic process, and available treatment options.
What is brittle bone disease?
Brittle bone disease, also known as osteogenesis imperfecta (OI), causes fragile bones that are prone to breaking easily. A person is born with this condition and is affected throughout life.
The condition can range from mild to severe, with most mild cases resulting in a few bone fractures, whereas more severe forms can cause hearing loss, heart failure, spinal cord problems, and permanent deformities.
It is quite a rare condition, affecting 1 in every 15,000 people. That equates to around 5000 individuals in the UK.
Brittle bone disease is caused by a genetic defect in the gene that manufactures Type 1 collagen in the body. This protein plays an essential role in shaping and strengthening bones. It is most commonly an inherited condition passed on from parents to children, but sometimes, a genetic mutation can be the cause.
Brittle bone disease is present at birth, although depending on the severity of the disease, symptoms may not manifest until later childhood or even your teenage years.
What are the different types of brittle bone disease?
Brittle bone disease comes in several types, each varying in severity and symptoms. The most common types include:
Type 1 OI
This is the mildest and most common form of brittle bone disease. People with Type 1 OI produce good quality collagen but not enough of it, resulting in mildly fragile bones. Children with this type of brittle bone disease typically get fractures because of mild trauma, but such fractures are less common in adults with the condition. Teeth can also be affected, with dental cracks and cavities being fairly common.
Type 2 OI
This is the most severe form of brittle bone disease with complications that can be life-threatening. Either the body doesn’t produce enough collagen or is inferior quality, resulting in significant bone deformities. For example, a child born with Type 2 OI may have a narrowed chest, broken ribs, or underdeveloped lungs.
Type 3 OI
Type 3 OI is also a severe form of brittle bone disease that can cause bones to break easily. In Type 3 OI, the body produces enough collagen but is of poor quality. As a result, it can cause bone deformities before birth that progressively worsen throughout life.
Type 4 OI
Type 4 OI is the most variable form of brittle bone disease, with symptoms ranging from mild to severe. As with Type 3 OI, the body produces enough collagen, but the poor quality can cause congenital disabilities like bowed legs.
What are the symptoms of brittle bone disease?
The symptoms of brittle bone disease can range from mild to severe, with the most apparent symptom being when a child breaks a bone very easily. However, other symptoms to look out for include:
- Bleeding and bruising easily after an injury
- Bowing of the legs and/or arms
- Breathing problems
- Exhaustion
- Loose joints
- Weak muscles and tissues
- A barrel-shaped chest
- A triangle-shaped face
- Discolouration of the sclera (the white of the eye)
- Kyphosis, or an abnormal outward curve of the spine
- Scoliosis, or an abnormal lateral curve of the spine
- Early hearing loss
- Heart Defects
- Bone deformities
The onset of these symptoms can vary from person to person and can easily be mistaken for other conditions. Always seek the advice of a healthcare provider for a diagnosis of brittle bone disease.
How is brittle bone disease diagnosed?
A diagnosis of brittle bone disease is usually made by a combination of tests and information you provide about symptoms and family history.
Common tests used in the diagnosis of brittle bone disease include:
- X-rays can help show both old and new fractures and any defects in bones
- Blood or urine tests to rule out other conditions that could cause weak bones like rickets
- Biochemical testing of a skin sample to examine collagen
- A DEXA scan to measure bone mineral density
- DNA testing to determine the mutation of the collagen gene
What treatments are available for brittle bone disease?
Currently, there is no cure for brittle bone disease. However, treatments are available to relieve the patient of their symptoms and any associated pain and help them live a healthy and active life.
Some common treatment options include:
- Medications to help strengthen the bones
- Medications to reduce pain associated with fractures/broken bones
- Physical therapy strengthens the body and promotes movement
- Surgery to repair broken bones, implant metal rods into long bones for support, or fix deformities in bones
- Braces to support weak ankles, knees, legs, and wrists
- Casts and splints for broken bones
- Mental health counselling to help treat any anxiety linked to the condition
- Following a calcium-rich diet
- Taking a vitamin D supplement
- Avoiding contact sports where injuries are more likely
People with brittle bone disease may be advised to maintain a healthy weight to avoid putting excess stress on their bones. They may also be encouraged to participate in non-contact, low-impact activities like swimming, which can strengthen bones and improve mobility.
What is the long-term outlook for anyone living with brittle bone disease?
The long-term outlook of a person living with brittle bone disease varies depending on the type they have. Outlooks for the four main types of brittle bone disease are:
- Type 1 OI – A normal life with relatively few problems
- Type 2 OI – This type of OI can be life-threatening, with some babies dying in the womb or shortly after birth due to respiratory complications
- Type 3 OI – Severe bone deformities that may result in poor mobility and needing a wheelchair and generally a shorter lifespan than people with type 1 or 4 OI
- Type 4 OI – Life expectancy is normal or close to normal, but may need aids to support mobility throughout life
How can Bluecrest help you manage brittle bone disease?
Brittle bone disease is a lifelong condition that can be challenging to manage. With multiple check-up appointments to attend and regular blood tests required to monitor the condition, it can be hard to juggle your time between appointments and lead a normal, fulfilling life.
Choosing a private provider like Bluecrest Wellness can help mitigate some of the stress by having more flexibility to choose an appointment time and location to suit your schedule. Our private Bone Profile Blood Test is a quick, easy, and accurate way to gain insights into the status of your bone health at a time and place that’s convenient for you.
The test can be added to any of our Health MOTs to provide you with more comprehensive insights into your overall health and wellbeing. It includes key metrics like your blood pressure and weight as well as your risk of some common medical conditions, like high cholesterol or diabetes, to give you a better picture of your general health.
With testing locations nationwide, it is easy to find a convenient location near you.
BOOK A PRIVATE HEALTH MOT TODAY
