What is Osteogenesis Imperfecta?
Osteogenesis imperfecta is a common genetic disorder characterized by easily breakable or fragile bones. It is also called brittle bone disease. OI is caused by a mutation in one of the genes that affect the production of collagen, a protein that maintains the strength and elasticity of bones. The severity of the OI can vary greatly, with some people having only a few fractures in their lifetime while others may have hundreds.
In addition to bone fragility, OI can cause other symptoms such as hearing loss, scoliosis (curvature of the spine), blue or grey tint to the white part of the eye, and brittle teeth. Treatment for OI focuses on managing symptoms and preventing fractures. This may include physical therapy, bracing or casting to support bones, medication to improve bone density, and surgery in some cases.
Types
Several types of OI can be classified according to their clinical and genetic characteristics. The most commonly used OI classification system is the Sillence classification, which divides OI into four main types based on severity and clinical characteristics.
- Type I : This is the mildest form of OI and is the most common type. People with Type I OI have mild bone fragility, may experience a few fractures in their lifetime, and usually have a normal lifespan.
- Type II : This is the most severe form of OI, often fatal in the perinatal period or shortly after birth. People with type II OI have extremely fragile bones that can fracture even in the uterus, causing the bones to be poorly formed.
- Type III : This is a severe form of OI that can cause progressive bone deformities and significant short stature. People with Type III OI have a high risk of fractures and may also have respiratory issues, hearing loss, and dental problems.
- Type IV : This is an intermediate form of OI that falls between Type I and Type III in severity. People with Type IV OI may have moderate to severe bone fragility and are at risk of fractures during childhood and adolescence.
Symptoms
The symptoms of OI can vary widely depending on the severity of the condition. However, some common symptoms of OI include:
- Frequent fractures : People with OI may experience multiple fractures throughout their lives, even with minor trauma or no apparent cause.
- Bone deformities : OI can cause bones to be shorter than normal, leading to various physical deformities.
- Weakness : People with OI may have weakened muscles and reduced endurance, which can limit their physical activity.
- Hearing loss : OI can affect the bones in the ears and lead to hearing loss.
- Respiratory problems : Severe forms of OI can affect the bones in the rib cage and spine, leading to respiratory problems.
- Blue or grey-tinted sclera : The whites of the eyes may appear blue or greyish in people with OI due to the thinness and transparency of the sclera.
- Dental problems : OI can cause tooth decay, brittle teeth, and other dental problems.
It's critical to remember that not everyone with OI will experience all of these symptoms and that the severity of OI can vary significantly even within the same family. If you suspect you may have OI, it's important to consult with an orthopaedician for appropriate diagnosis and management.
Causes
Gene mutations
OI is caused mainly by mutations in one of several genes responsible for the production of collagen.
There are several types of OI, each caused by different mutations in these genes. The most common type is caused by mutations in the COL1A1 or COL1A2 genes, which produce type I collagen, the most abundant protein in bone. Mutations in genes responsible for the production of other types of collagen cause other less common types of OI.
OI can be inherited in an autosomal dominant or recessive pattern, depending on the specific type of OI. In autosomal dominant OI, a person only needs to inherit a single copy of the mutated gene from any parent to develop the condition. In autosomal recessive OI, a person needs to inherit double copies of the mutated gene, one from each parent.
In some cases, OI can also be caused by spontaneous mutations that occur during early fetal development, with no known family history of the condition.
Additionally, certain environmental factors, such as smoking or exposure to various chemicals, may increase the risk of developing OI in individuals with a genetic predisposition to the condition.
Diagnosis
The diagnosis of OI involves a combination of clinical evaluation, medical history, genetic testing, and imaging studies. Here are some of the common methods used to diagnose OI:
Treatment
The treatment of OI is aimed at managing symptoms and preventing fractures and may involve a combination of medical interventions, physical therapy, and lifestyle modifications. Here are some of the common methods used to manage OI:
- Physical therapy : Physical therapy can help improve muscle strength, flexibility, and balance and reduce the risk of falls and fractures.
- Surgery : In some cases, surgery may be necessary to correct bone deformities or stabilize fractures.
- Assistive devices : Assistive devices, such as braces, crutches, and wheelchairs, can help support weakened bones and improve mobility.
- Lifestyle modifications : People with OI may need to modify their lifestyle to reduce the risk of fractures, such as avoiding high-impact activities and maintaining a healthy diet to support bone health.
- Genetic counselling : People with OI and their families may benefit from genetic counselling to understand the inheritance pattern of the condition and make informed decisions about family planning.
Medications
Bisphosphonates, such as alendronate and pamidronate, are drugs that can increase bone density and reduce the risk of fractures in people with OI.
It's important to note that the management of OI should be tailored to each individual's needs and may require ongoing monitoring and adjustments.
Do's And Don'ts
| Do’s | Don’ts |
| Exercise regularly | Engage in high-impact activities |
| Get enough Vitamin D and calcium through diet and supplements | Lift heavy objects |
| Take precautions to prevent falls | Smoke or use tobacco products |
| Stay up to date on medical treatments | Ignore symptoms |
Care at Medicover Hospitals
At Medicover, we have the best team of orthopedicians who work together to provide treatment for osteogenesis imperfecta with utmost precision. Our highly skilled healthcare team utilises the latest diagnostic techniques and advanced medical approaches to treat osteogenesis imperfecta.
