Osteogenesis imperfecta

Osteogenesis Imperfecta or OI is also referred to as the Brittle Bone Disease. It is a genetic bone disorder which makes the bones fragile. Individuals who have osteogenesis imperfecta are born with the inability to make connective tissues or have defective connective tissues at birth. It is generally caused by a protein or type-I collagen deficiency. The condition is usually hereditary but it could also be an individual or a sporadic mutation.

Today, there are eight recognized classifications of osteogenesis imperfecta, which ranges from the mild types to the more fatal ones. Most of these types result in bone deformities.

In Type I OI, the collagen has a normal quality; however, not enough is produced. Although this is the mildest among the types, the bones can still be easily broken. Some of the symptoms of this type of osteogenesis imperfecta would include the discoloration of the whites of the eyes or the sclera, early hearing loss, slight curvature of the spine, slightly protruding eyes, poor teeth, poor muscle tone and loose joints.

The most severe would be type II OI, which is characterized by the insufficient quantity and poor quality of collagen produced. Patients with this type usually have severe deformities and respiratory problems. Most patients die during the first year of their life.

Individuals with type III, IV, V and VI OI produce collagen which is poor in quality but sufficient in quantity. These individuals are usually short in stature, have barrel-shaped rib cages and curved spines. Type III is differentiated from the other types as it is progressive, meaning the symptoms and deformities may be minimal at birth but develop as time progresses. Type III OI could cause severe bone deformities and bones could even be broken before birth. Respiratory problems could also be experienced by patients with this type of osteogenesis imperfecta.

Patients with type IV, V, and VI OI have deformities which range from being mild to moderate, which are commonly accompanied by the discoloration of the sclera as well as early hearing loss. The risk of getting fractured bones is highest before the patient hits puberty. Type V OI is distinguished by the bones having a “mesh-like” appearance while type VI OI is distinguished by the bones having a “fish scale” appearance.

Types VII and VIII OI are still being studied today and are caused by further genetic mutations in patients.

Unfortunately, there is presently no known permanent cure for osteogenesis imperfecta. However, there are several methods which can be used to treat or manage the condition. First off, measures should be taken to avoid bone fracture. Patients are advised against engaging in physical activities which could cause too much impact on the bones; however, non-forceful exercises can be done such as swimming. Swimming can help in maintaining muscle strength as well as preventing bone loss. There are also some physicians who recommend the use of rods to stabilize the movement of the longer bones of the arms and legs. Patients are also given dietary recommendations which are high in calcium to strengthen the bones. Calcium supplements may also be recommended to increase calcium intake. It is also important to maintain a normal weight to avoid putting too much pressure on the skeleton, which could lead to bone injuries or deformities. When a patient gets a bone infection, several antiseptics and antibiotics can be used. To manage the pain and to treat OI, there are several medications available, with the most with biphosphonates as the most commonly used.

Although patients and relatives of patients who have osteogenesis imperfecta could have a difficult time dealing with the symptoms of the disease; however, through taking the proper steps and appropriate medication, they can easily live a normal and happy life.

Last updated on Feb 27th, 2010 and filed under Musculoskeletal Disorders. Both comments and pings are currently closed.

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