Brittle bone disease, otherwise known as Osteogenesis imperfecta, or OI, is a disease that causes the bones to easily break.
Brittle bone disease is an inherited or genetic disorder that is characterized by fractures that occur without any known cause. This illness is associated with the genes. It is due to the abnormal production of collagen, a protein that can be found in the bones. This type of protein is very essential for bone strength. Osteogenesis imperfecta is not associated with the calcium levels in the body. It is mainly because of the problems in the production of collagen.
Types of Brittle Bone Disease
Brittle bone disease has been classified into four types. They are classified according to the severity of the condition. The symptoms may vary from one person to another. Type I OI is the most common while Type II is the most severe.
In Type I OI, the collagen being produced is of normal quality; however, the amount being produced is too high. This is the most common type and the mildest. The bones in Type I OI fracture easily and are commonly seen in children. The spine may exhibit signs of kyphosis or scoliosis which may cause the affected person to appear shorter. Brittle teeth may also occur as well as other dental problems. The collagen may furthermore cause the sclera, or the white area of the eyes, to turn blue. Hearing loss as well may begin in the early 20s or 30s.
Type II OI is considered the severe form of this disease. The collagen being produced by the body with this type is both poor in quantity and quality. Newborns and children are severely affected by this disease. Although fatal, a few affected by this disease have been able to survive to adulthood. This type of OI causes severe fractures and bone deformities. Because of poor bone development, the affected patient can appear very small. The lungs may be underdeveloped which makes this type fatal.
Another form of OI is Type III. The collagen being produced with this type of OI is the right amount but is of poor quality. Just like any OI, the bone deformities and fractures also occur with this type. The fractures happen commonly at birth. The affected person appears very small in terms of stature. Abnormalities in joints as well as poor development in the muscles may occur in the upper and lower extremities. The ribcage of the patient is usually barrel-shaped. Spinal abnormalities like kyphosis and scoliosis may also take place. In some cases, respiratory problems may happen.
The poor quality and sufficient amount of collagen is a characteristic of Type IV OI. In terms of severity, it is situated between Type I and Type III OI. It is usually traced through family history. The fractures commonly occur before the onset of puberty. The sclera of the eyes may appear near-normal or normal. Dental problems are common. Hearing loss may begin early. Spinal problems are also common with this type.
Brittle Bone Disease Diagnosis
The diagnosis of brittle bone disease is mainly focused on the patient’s medical history as well as physical examination. However, diagnostic procedures for a brittle bone diagnosis may be used, such as an X-ray or skin biopsy. Physical examination includes examining the eyes for the color of their sclera and the ears to assess for hearing loss. X-rays are used to detect bone, tissue, and organ problems. A skin biopsy is done for the evaluation of the structure and the amount of collagen present in the skin. However, this diagnostic exam is very complicated. It requires surgery to remove a part of the skin. The skin is then sent to a laboratory for examination. Furthermore, not all institutions offer this type of diagnostic procedure, and the results may take up to at least six months.
Treatment and Management of Brittle Bone Disease
There is no cure for brittle bone disease today. No such medication or surgery can be utilized to cure this disease. The physician may only base the treatment from the severity of the disease, the patient’s preferences, the patient’s current condition and age, and the patient’s tolerance to therapies or procedures.
Treatment for brittle bone disease is mainly to prevent or correct the symptoms that occur. The physician may advise to take extra precautions to prevent fractures from occurring. This includes avoiding extreme or contact sports and vigorous activities. Surgery such as rodding or the insertion of a metal bar that is the same length of the bone is done. This is to prevent deformities as well as stabilize the bones. The patient is also recommended to consult a dentist to correct and prevent dental problems. A physical therapist may also be necessary to provide the patient exercises to strengthen the bones and prevent injuries. Assistive devices such as: braces, canes, and wheelchairs may be utilized.