What is Brittle Bone Disease?

Brittle bone disease is a hereditary disorder that causes your bones to break easily, usually without any kind of trauma, such as a fall [1]. The condition is also known as osteogenesis imperfecta (OI), which means "imperfectly formed bone."

Brittle bone disease can be moderate or severe. The majority of instances are mild, with only a few bone fractures.

 

What are the Causes of Brittle Bone Disease?

Brittle bone disease is inherited or passed down through families [2]. It's caused by a problem in a gene that's intended to produce a protein called collagen. Collagen is a protein found in the body that helps to form and strengthen bones. If you don't get enough of it, your bones weaken and break easily.

Most children with brittle bone disease inherit this gene from one parent, but it is possible to inherit it from both. A child may not inherit the gene from either parent, but the gene mutation may emerge on its own.

 

 

What are the Symptoms of Brittle Bone Disease? 

Brittle (weak) bones are common in people with osteogenesis imperfecta. The majority of people with the disease have broken bones at some point in their lives. A child with OI may have hundreds of shattered bones during birth in severe cases.

Brittle bone disease is characterized by one or more of the following symptoms:

• Multiple bone fractures
• Bone deformities
• Early hearing loss (this is due to fracture of the middle ear ossicles)[3]
• Blue sclera, or a bluish color in the white of the eye (this is because the lack of collagen makes the sclera see-through, which exposes the blood vessels)
• Loose and weak joints
• Loose and weak teeth
• Heart defects (Due to problems in the collagen protein of the heart)
• Respiratory problems
• Kyphosis (which is an abnormal outward curve of the upper spine)[4]
• Scoliosis (which is an abnormal lateral curve of the spine)
• Bowed arms and legs 

 

 

Treatment of Brittle Bone Disease:

Brittle bone disease has no known cure. There are, however, supportive therapies that can help lower your kid's chance of fractured bones while also improving their quality of life. Brittle bone disease treatments include [5]:

• Bone-strengthening medications that reduce the likelihood of bone fractures
• Engaging in low-impact workouts (such as swimming) to assist build muscle and bone strength
• Physical therapy (PT) can help enhance muscle strength, overall fitness, and breathing. If necessary, PT can teach children how to use mobility aids.
• Occupational therapy (OT) to aid children in learning to utilize assistive equipment can be helpful. It can aid in the development of motor skills in younger children.
• Preventing fractured bones by avoiding activities that may cause falls (such as skiing) or place undue strain on the bones (such as jumping on a trampoline)
• Receiving immediate treatment from an orthopedic physician when bones ‌break
• Treatment for dental problems caused by OI
• Surgery to deal with hearing problems
• Surgery to repair a fractured or irregularly formed bone. To avoid shattered bones, surgeons may insert a metal rod into the thighbone or arm bone.

 

 

 

 

 

References:

1. https://www.ncbi.nlm.nih.gov/books/NBK536957/
2. https://www.sciencedirect.com/science/article/abs/pii/S8756328217300492
3. https://www.cambridge.org/core/journals/journal-of-laryngology-and-otology/article/abs/how-common-is-hearing-impairment-in-osteogenesis-imperfecta/215FADBB8525BC47A658B98F4EE40730
4. https://www.tandfonline.com/doi/abs/10.3109/17453679809000931
5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2940745/

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