Understanding Osteogenesis Imperfecta (Brittle Bone Disease)

What is Osteogenesis Imperfecta (Brittle Bone Disease)

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a genetic condition where the bones are brittle and are prone to break more easily. In this condition, the body doesn't produce enough, or there is an imperfect production of collagen I, a vital requirement in strengthening the bones. This deficit, along with other risk factors, results in Osteogenesis Imperfecta.

Living with Osteogenesis Imperfecta can be managed to a large extent with the help of physiotherapy and rehabilitation. Read on to learn more about the best ways to manage Osteogenesis Imperfecta with physiotherapy.

Causes of Osteogenesis Imperfecta

Osteogenesis Imperfecta is caused by a genetic mutation of the gene responsible for producing the essential protein collagen, which is crucial for bone strength.
The condition is typically present at birth due to hereditary factors or prenatal development during pregnancy.
Sporadic genetic mutations during early fetal development can also lead to Osteogenesis Imperfecta, though they are extremely rare and not inherited from parents.

How do Genetic Mutations Affect Collagen Production

Genetic mutations that cause Osteogenesis Imperfecta (OI) are frequently inherited from parents and can be hereditary. In Type I and Type IV OI, the genetic mutation is commonly passed down from one parent who already has the condition. These mutations disrupt the body's capacity to produce adequate collagen, which plays a crucial role in the formation and strength of bones. As a result, the reduced collagen production leads to the characteristic fragility and brittleness of the bones seen in Osteogenesis Imperfecta.

Types of Osteogenesis Imperfecta (Brittle Bone Disease)

Type I

This is the mildest condition where the body produces collagens but not enough. In this type, the bone may break easily but is shaped normally. Bones are more prone to breaking in the initial stage of the individual. Usually, the bones break less after puberty. In some cases, individuals may develop a bluish tint in their eyes.

Type II

This is an intense condition where babies are born with fragile bones. The collagens do not form, and the children are prone to fractures. Some develop breathing problems as well. In most cases, children do not survive if they have this condition.

Type III

In this type, the collagen does not form properly, and children are often born with curvature in the spine and other bones. They are prone to more fractures and other ailments, such as breathing issues, hearing loss, and weak teeth as they grow.

Type IV

In this type, the children are often shorter than the ones of their age and have bone deformities. It is not as severe as type II, but the bone strength increases as they hit puberty. However, they are prone to fractures often when they are young.

Symptoms of Osteogenesis Imperfecta (Brittle Bone Disease)

Individuals with Osteogenesis Imperfecta experience various symptoms due to their bones being more susceptible to fractures and deformities. Some of the characteristic symptoms of Osteogenesis Imperfecta include:

Fragile and brittle bones, prone to fractures with mild impacts
Frequent fractures
Deformity of the spine, legs, and other bones makes them look poorly formed.
Blue, purple, or gray tint in the whites of the eyes
Triangular-shaped face
Brittle teeth
Hearing loss
Breathing problems

It's important to note that the symptoms and their severity of OI can vary depending on the specific type of the condition and the individual case. If you suspect someone may have OI or if any of these symptoms are observed, seeking immediate medical attention is crucial for accurate diagnosis and appropriate management.

Diagnosing Osteogenesis Imperfecta

While the symptoms may present as Osteogenesis Imperfecta, it is important to diagnose it accurately. This will help in managing the condition in the right way. There are several ways to confirm if you have OI.

Blood tests

Blood tests are one of the most common ways of diagnosing OI. It helps understand the collagen production in the body and identify if there is any mutation of the gene. This can help verify any physical symptoms that may present

Genetic testing

Genetic testing is an important test that helps identify OI. Parents and babies can be checked for the gene mutation that impacts collagen production. This helps manage the condition and plan for anything that may require medical intervention in the future.

X-rays

X-rays help locate and identify any fractures or deficiencies in bone growth. It also helps to understand if the bones are in the right places and right shapes. This helps identify OI if it is present in a person with no genetic history in their parents of having OI.

Bone Density Tests

Bone density tests such as Dual x-ray absorptiometry (DEXA) may be suggested to understand bone mineral density. This can be crucial in allowing medical professionals to understand the cause and diagnose correctly.

Genetic Counseling

Genetic counseling helps understand family history, which is crucial for understanding the possibility of the condition if people plan on having children.

Treatment Options for Osteogenesis Imperfecta

OI is a chronic condition. It can be managed with medication, surgery, and physiotherapy. Read on to learn more about treatment options for OI.

Medications

Medication for strengthening the bones is an effective way of managing the condition. In these cases, doctors may prescribe crucial medications for bone growth and str genting. They may even subscribe to painkillers and muscle relaxants to help reduce muscle stress. Bisphosphonates are often suggested as it slows down the intensity of OI.

Surgery

Surgery is another effective way of managing the condition. Surgery is sometimes performed to correct any curvature or deformity in any joints, such as the spine, femur, and other bones. A common procedure called "rodding" is also practiced, where rods are placed in surgery near the long bones of the legs. This provides support for weak bones as one grows old.

Physical Therapy

Physical therapy is an effective way of managing the condition. Physical therapy is a comprehensive plan that focuses on the all-around development of the body. It focuses on strengthening the muscles, the joints, and the bones. Physical therapy also aims to improve the range of motion, which is crucial for the growth of the bones and reduces the possibility of fracture in bones.

Assistive devices

Assistive devices help reduce the risk of fractures as they help manage weight and pressure on the body. Using walking sticks, back support, and other assistive devices reduces the possibility of injury to the body that could result in a fracture.

Bracing

Bracing certain areas of your body impacted by OI can help straighten the bones. Braces provide support and reduce the intensity of any physical impact that may cause the bone to break. Braces can reduce the intensity of bone injuries to a large extent,

Complications of Osteogenesis Imperfecta

In Type II Osteogenesis Imperfecta, the condition can be fatal for babies even before or shortly after birth due to extremely fragile bones.
Newborns with OI may experience various health issues because of their fragile bones.
Internal bleeding and significant damage to bones and muscles are possible complications.
Damage to the spine and neck can be permanent, as any bone injury can be problematic for people with Osteogenesis Imperfecta.
Some individuals with Osteogenesis Imperfecta may face difficulty breathing and experience hearing loss.

When to Seek Medical Attention

If you suspect Osteogenesis Imperfecta or have risk factors related to the condition, it's essential to be aware of when to seek medical attention for timely diagnosis and management. Look out for the following signs:

If you have mutated genes linked to Osteogenesis Imperfecta, it's important to seek medical attention for proper management.
Look out for signs like troubled breathing, circular rib cages, deformed spine or bones, and hearing loss, as they may indicate OI.
If you experience frequent fractures, don't delay; seek medical help promptly, as it could be a sign of Osteogenesis Imperfecta.

Living with Osteogenesis Imperfecta (Brittle Bone Disease) | How Can Physiotattva Help

Osteogenesis Imperfecta is a chronic condition that can be difficult to manage as you grow older. In young children, it is further complicated by their urge to explore and be creative. These can be anxious times leaving caretakers concerned and worried. At Physio Tattva, our team is dedicated to helping you navigate such difficult times. Through our in-house team of expert physiotherapists, we provide world-class care for someone with Osteogenesis Imperfecta, help their caretakers understand the conditions, and equip them with facilities to manage them.

Our team ensures that you are cared for through one-on-one consultation for physiotherapy, excess and other factors that help you manage your condition. Reach out today to learn more about how to live with Osteogenesis Imperfecta from our team of experts.

Frequently Asked Questions

What causes brittle bone disease?

A genetic mutation that reduces or impacts the production of collagen that helps strengthen the bones causes brittle bone disease.

Can brittle bone disease be prevented?

It cannot be prevented. However, it can be managed with medication, surgery, and physiotherapy. Physiotherapy offers comfort and strengthens the bones for brittle bone disease.