Brittle Bone Disease
Brittle bone disease is a genetic bone disorder that results in fragile bones that break easily. It is present at birth and usually develops in children who have a family history of the disease.
The disease is often referred to as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”
Approximately one person in 20,000 will develop brittle bone disease. It occurs equally among males and females.
Experts categorize OI into 19 types. Healthcare providers classify osteogenesis imperfecta as Type I through Type XIX.
The first eight osteogenesis imperfecta types are the most common.
These include –
• Type I.
Mildest and most common type. About 50% of all affected children have this type. There are few fractures and deformities
• Type II.
Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed. A baby with type II OI usually dies within weeks of birth
• Type III.
Most severe type in babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby.
• Type IV.
Symptoms are between mild and severe. A baby with type IV may be diagnosed at birth. He or she may not have any fractures until crawling or walking. The bones of the arms and legs may not be straight. He or she may not grow normally.
• Type V.
Similar to type IV. Symptoms may be medium to severe. It is common to have enlarged thickened areas (hypertrophic calluses) in the areas where large bones are fractured
• Type VI.
Very rare. Symptoms are medium. Similar to type IV.
• Type VII.
May be like type IV or type II. It is common to have shorter than normal height. Also common to have shorter than normal upper arm and thighbones.
• Type VIII.
Similar to types II and III. Very soft bones and severe growth problems.
The symptoms of brittle bone disease differ according to the type of the disease. Everyone with brittle bone disease has fragile bones, but the severity varies from person to person.
Brittle bone disease has one or more of the following symptoms –
• bone deformities
• multiple broken bones
• loose joints
• weak teeth
• blue sclera, or a bluish color in the white of the eye
• bowed legs and arms
• kyphosis, or an abnormal outward curve of the upper spine
• scoliosis, or an abnormal lateral curve of the spine
• early hearing loss
• respiratory problems
• heart defects
Brittle bone disease occurs because of a gene mutation (change).This mutation may be sporadic (random) or a baby may inherit the gene from one or both parents.
Some parents are carriers for the gene that causes OI. Being a carrier means you don’t have the disease yourself but can pass it down to your child.
It’s caused by a defect in a gene that is supposed to make a substance called collagen. Collagen is a protein in your body that forms and strengthens bones. If you don’t have enough of it, your bones become very weak and will break easily. Most children with brittle bone disease get this gene from only one parent, but it’s possible to get it from both. Sometimes a child doesn’t inherit the gene from either parent, but the gene mutation develops on its own.
Before birth, healthcare providers may detect possible OI through genetic testing. If one or both parents is a carrier for OI, a genetic counselor can guide parents about OI risks.
To confirm an OI diagnosis after a baby is born, healthcare providers may use –
• Blood tests to check for gene mutations that indicate brittle bone disease.
• Bone density tests, using low-dose X-rays across the body to measure mineral levels in bones.
• Dual Energy X-ray Absorptiometry scan (DXA or DEXA scan). A scan of the bones to check for softening.
• Bone biopsy. A sample of the hipbone is checked. This test requires sleep medicine (general anesthesia).
Treatment can include –
• Medicines to strengthen bones and lower their chances of breaking.
• Preventing broken bones by avoiding activities that may lead to falls (such as skiing) or put too much stress on the bones (such as jumping on a trampoline).
• Getting treatment from an orthopedic surgeon right away when bones do break.
• Doing low-impact exercises (such as swimming) to help build muscle strength and increase bone strength.
• Physical therapy (PT) to build muscle strength, build overall fitness, and improve breathing. PT can help kids learn to use mobility aids, if needed.
• Occupational therapy (OT) to help kids learn to use assistive devices, if needed. In younger kids, it can help with motor skill development.
• Surgery to fix a broken or abnormally shaped bone. Surgeons also might put a metal rod into the thighbone or arm bone to prevent broken bones.
• Surgery for hearing problems
• Treatment for dental problems
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