Brittle bone disease is characterized by increased fragility of bones, which are easily fractured by slightest trauma. Also known in medical parlance as osteogenesis imperfecta, this bony disorder is a result of some abnormal changes occurring in the genes. It is usually an inherited genetic disorder found since birth.
The hallmark of brittle bone disease is fractures, which occurs due to low production of collagen and not as a result of low calcium level.
In severe form of brittle bone disease the fractures may take place in the uterus itself before the birth. The infant is born with deformities. In other milder variety, fractures do not occur for several years after the birth, and the tendency of breaking of bones diminishes once the child attains puberty.
Causes Of Brittle Bone Disease
Osteogenetic imperfect or brittle bone disease is a genetic disorder. In this disease the production of collagen is at fault. Collagen is a type of protein that maintains the integrity and strength of bones. In some people the disease is inherited, meaning there is a family history. It usually occurs in milder variety.
At the core of bone development, collagen, a type of protein that binds the cellular structure of bone is involved. Minerals than get deposited on this strong foundation. However, in this disease either there is low production of collagen due to abnormality in genes or the collagen that is produced is defective. This leads to weakening of the bony fabric and the chances of bone breakage are high. Children are more vulnerable because their bones are in rapid mode of growth.
Symptoms Of Brittle Bone Disease
Since collagen is found in bones, cartilage, connective tissues in the body, most of the symptoms relate to problems in joints and bones.
Fractures: they are the hallmark of this disease. Fractures may occur early in the uterus. The infant may be born with deformed extremities, since the fractured bone heals in the abnormal position in the uterus. The fragile bones may also break at the time of delivery. Many children having severe form of congenital defects die soon after birth. Those who survive may have fractures of extremities even on slightest trauma.
Lax joints: joint is a place where two bones meet. The other structures involved to keep the stability of joint are cartilage, ligaments and tendons. They all are made up of collagen. When there is deficiency of collagen in them, the whole joint structure becomes lax and flaccid. The flaccidity of ligaments and tendons may cause repeated dislocation.
Grey or blue white of eyes: the sclera or the white of eye is made up of collagen tissue. It is the protective layer of the eye. Due to less collagen or defective collagen the sclera is thin. It allows the underlying pigments to show through. Occasionally cataract in early life is associated with this disease.
Deafness: deafness in later life is generally due to the fractures of any or all the three bones that are responsible for conduction of sound trough the middle ear.
Growth impairment, excessive sweating, discoloration of teeth and increased bruising are few other symptoms that can be detected.
Treatment For Brittle Bone Disease
There is no cure for brittle bone disease.
- The main aim is to effectively handle and treat fracture and ensure that it heals without leaving any deformity in the extremities.
- Physiotherapy is the second most important part to build muscles and reduce bone demineralization due to immobility caused due to fracture.
- It may be very risky for any operative techniques as the bones are very fragile.
- The patient can live a normal life by taking care and some precautions.
- Some children may require counseling due to fear of fracture and injury in their mind.
- Parents and family members have to be taught how to handle these young children, so as to make their life easier and more productive with good education.