Our bones are what give our bodies shape, support and the ability to move. Although they are rigid, they are made up of living tissue that continually undergoes remodeling. Bone remodeling is a process involving the breakdown and resorption of old bone tissue and the formation of new bone. The bones are responsible for many functions in addition to providing support including storing minerals and producing new blood cells. There are many bone diseases, some of which are congenital, meaning they are present at birth.
Osteogenesis Imperfecta
Osteogenesis imperfect (OI), also known as brittle bone disease, is a genetic disease that causes bone to be weak and easily break. The Osteogenesis Imperfecta Foundation reports that this disease affects approximately 25,000 to 50,000 people in the United States. OI is caused by a mutation in a gene that affects the cells responsible for producing collagen. Collagen is found in other tissues in the body as well thereby causing other medical problems.
The most common symptom of OI is frequency of broken bones. Those with a mild form of the disease may experience the occasional broken bone, while more severe disease may cause hundreds of fractures. Those with OI also may have muscle weakness, fatigue, curved bones, brittle teeth and a short stature.
Treatment includes medications such as bisphosphonates to help slow the breakdown of bone and rebuild new bone, growth hormones and vitamin D. Patients with OI also benefit from exercise therapy to help bones strengthen through activity.
Legg Calve Perthes Disease
Legg calve perthes disease (LCPD) is a rare disease affecting approximately 1 in 1,200 children, according to statistics provided by the National Osteonecrosis Foundation. This disease affects the hip bones causing necrosis, or death, of the bone tissue. The exact cause of the disease is unknown, but it does run in families.
The first symptoms indicative of a problem are a limp along with pain in the hip, leg or knee. Treatment includes using crutches, keeping weight off the affected bones or surgery, depending upon the extent of the bone damage. The goal of any treatment is to reduce the irritation causing the symptoms and restore and maintain movement.
Fibrous Dysplasia
Fibrous dysplasia is a bone development abnormality that is present even before birth. It is caused by a mutation, or change, in a gene that affects the cells that produce new bone resulting in fibrous bone. Fibrous bone is an abnormal and weak type of bone that can cause pain and is easily fractured.
One of the first symptoms of fibrous dysplasia is pain, especially in weight-bearing bones such as the leg bones or pelvis bone. Bones may break frequently and, over time, the fibrous bone tissue can cause the bone to become deformed. Bone deformity can result in bowed legs, loss of vision or hearing when facial bones are deformed, and arthritis.
Surgery is the most common treatment, according to the American Academy of Orthopaedic Surgeons. Surgically adding metal implants such as plates and screws can help add stability to the bone preventing fractures.
