Erica Mae P.

Dy
BSN-III

Osteogenesis Imperfecta (Brittle

Bone Disease)
Osteogenesis imperfecta (OI) is a genetic disorder that prevents the body from building
strong bones.
People with OI might have bones that break easily, which is why the condition is
commonly called brittle bone disease.

What Causes Osteogenesis Imperfecta (OI)?

Osteogenesis imperfecta happens because of a defect in the gene that makes the
protein collagen. Collagen is an important building block of bones.
People who have OI are born with it. They either don't have enough collagen in
their bones or have collagen that doesn't work as it should. This makes their bones weaker and
more brittle than normal bones. It can also lead to bone deformities. (Deformed bones do not
have normal shapes).

The greatest risk factor is heredity. If one parent has osteogenesis imperfecta, a child has
a 50 percent chance of having the condition. The most common forms ofosteogenesis
imperfecta are inherited and can usually be traced through the family. Less common forms are
passed to children through recessive inheritance.
 The defect in the gene can be inherited from a parent. Kids with OI often have a parent
who has the condition. Sometimes, the defect in the gene happens spontaneously at the time of
conception.

What Are the Signs & Symptoms of Osteogenesis Imperfecta (OI)?

The severity of osteogenesis imperfecta can vary. Some people won't know they have it
until they fall and break a bone. For them, the only symptom of OI might be an occasional broken
bone. Other people can have many bone breaks without any obvious cause.

Signs of OI include:

 bones that break with no known cause or from very minor trauma
 bone pain
 bone deformity (such as scoliosis or bowlegs)
 a shorter stature
 brittle teeth (called dentinogenesis imperfecta)
 a blue, purple, or gray tint to the sclera (the whites of the eyes)
 triangular face shape
 hearing loss in adulthood
 loose joints

What Are the Types of Osteogenesis Imperfecta (OI)?

Doctors classify the different types of OI based on how severe the condition is. To date, 15 types
of OI have been identified.

Most cases of OI have symptoms that fall into one of these four classifications:

Type I osteogenesis imperfecta — people with type I OI have less collagen than normal. This
makes their bones fragile, but they don't have bone deformities. The first break usually happens
when a child starts walking. Fractures typically decrease after puberty.
Type II osteogenesis imperfecta — babies with type II OI usually are born with many fractures,
are very small, and have severe breathing problems. As a result, most will not survive.
Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their
peers, and may have severe bone deformities, breathing problems (which can be life-
threatening), brittle teeth, a curved spine, ribcage deformities, and other problems.
 Type IV osteogenesis imperfecta — people with type IV OI can have mild to serious bone
deformities, short stature, frequent fractures (which may lessen after puberty), and a curved
spine.

How Is Osteogenesis Imperfecta (OI) Diagnosed?

Besides a family history of OI, doctors look for frequent or unexplained bone fractures, dental
problems, blue sclera (the white part of the eye), short stature, and other symptoms as signs that a
child has OI.

They might also order tests like:

 X-rays, which can show fractures or healed breaks

 DNA tests, to identify the collagen gene mutation
 blood tests or urine tests, usually to make sure that other conditions, such as rickets, aren't
causing the symptoms
 biochemical testing, which may include a skin sample to examine the collagen
In severe cases, prenatal testing (such as an ultrasound) can detect fractures and bone deformities
before a baby is born.

How Is Osteogenesis Imperfecta (OI) Treated?

There's no cure for osteogenesis imperfecta. Treatment is based on a child's specific symptoms,
and can include physical therapy and mobility aides, occupational therapy, medicine, and
surgery. The goal is to prevent fractures, treat them properly when they do happen, preserve
mobility and independence, and strengthen bones and muscles.

The treatment team might include a primary care doctor, an orthopedist, rehabilitation
specialists, an endocrinologist, a geneticist, a neurologist, and a pulmonologist.

Preventing Broken Bones

Preventing bone fractures is key for people with OI. They can lower their risk of broken bones
by:

 avoiding activities that put them at risk for a fall or collision, or put too much stress on the bones
 doing low-impact exercises (such as swimming) to build muscle strength and mobility and
increase bone strength
Handling Fractures

 When bones do break, it's important to treat them right away with casts, splints, and
braces. Orthopedists (doctors who specialize in treating bone problems) might
recommend using lightweight versions of these devices that allow some movement
during healing.

Physical Therapy
 Physical therapy (PT) can be helpful for many kids with OI. It can build muscle strength,
which helps maintain function, promote aerobic fitness, and improve breathing. Kids who
need them can learn how to use mobility aides and assistive devices. In younger kids, PT
can help with motor skill development.

Medicines

 Doctors might prescribe bone-strengthening medicines to increase bone density and

further reduce the chances of fractures. Some people will need treatment to maintain bone
strength for the rest of their lives.

Surgery

 Sometimes, surgery is needed to repair a broken bone or fix a deformity. Surgeons also
might place metal rods into long bones (like the femur, tibia, and humerus) to prevent
breaks. Surgery also can correct dental problems from brittle teeth, and help with hearing
problems.