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Brittle Bone Disease

The medical term for brittle bone disease is osteogenesis imperfecta or OI for short. Children can be born with this disease. Generally, the severity of this condition lessens as a person ages. If a person, young or old, is experiencing numerous fractures, he could be suffering from brittle bone disease, according to Netdoctor.co.uk (See References).

  1. Problems With Collagen Production

    • Brittle bone disease is the result of malfunctioning collagen production (collagen is a protein) and doesn't have to do with calcium, as many of us think. Brittle bone disease is a genetic condition that occurs because of collagen production abnormalities. Collagen is necessary for bone strength and is the main protein component of bone.

    Genetic Mutation

    • Brittle bone disease can pop up out of nowhere. When this occurs, this is considered a new genetic mutation. A geneticist can advise you on inheritance patterns and whether your other children are at risk for this disease.

    Diagnosis

    • This condition is generally diagnosed after a person sustains multiple fractures. Another symptom of the disease, which isn't always present, is that the whites of the person's eyes will be gray or blue. Approximately 50 percent of the people who have brittle bone disease also have another unique characteristic: Additional small bones will be present in the sutures that are called wormian bones in the skull.

    HRT

    • Although hormone replacement therapy (HRT) is considered controversial because of its link to breast cancer, Netdoctor.co.uk says that women who have brittle bone disease, and who are menopausal, which in and of itself puts them at risk for osteoporosis, should consider taking hormones. The likelihood of sustaining fractures increases rather dramatically after menopause, particularly for a woman who has already been diagnosed with brittle bone disease. Discuss this with your physician, who can advise you of the risks and benefits of HRT, which preserves bones and prevents blood vessel problems that can lead to heart attacks. However, keep in mind the possibility of breast cancer developing as a result of HRT. If a menopausal woman does undergo HRT to prevent osteoporosis, she may resume her monthly period, but this can be avoided at times via the use of more modern forms of HRT.

    Hearing Loss

    • Hearing loss is common among individuals with brittle bone disease and this can be due to the fractures or deformed nature of small bones in the person's middle ear. Sounds are not transmitted normally to the inner ear because of these bone irregularities.

    Temporary Brittle Bone Disease

    • Infants can suffer from temporary brittle bone disease, which is a condition that was only recognized within the past two decades. The cause of this condition isn't known but it appears to affect twins and premature infants more than full-term and single infants. These babies can suffer from numerous fractures primarily during the first six months of their life, but this phenomenon can last up to a year. Parents who have an infant suffering from this condition might both have collagen abnormalities as may their relatives.

    Vitamin D

    • The Mayoclinic.com (See References) notes that a lack of Vitamin D can result in osteoporosis, which is a brittle bone disease. Vitamin D has many benefits, including, but not limited to, building muscle strength and stronger bones, which helps older people with their balance and coordination so that they're not as likely to stumble and fall. Deficient levels of Vitamin D can increase the risk of cancer, including cancer of the lungs, kidney, uterus, colon, breast, ovary and rectum. Although doctors aren't quite sure why Vitamin D works in this fashion, it does appear to prevent cells from becoming cancerous by helping regulate cellular growth. Vitamin D is also helpful in preventing muscle weakness and pain and might offer protection from multiple sclerosis, type 1 diabetes, auto-immune diseases (including rheumatoid arthritis) because it helps reduce inflammation and bolsters the immune system. The body produces Vitamin D when an individual is exposed to the sun. Elderly people are often housebound and don't get much sun exposure as a result. The Mayo Clinic recommends that a person take between 800 and 1,000 IUs of Vitamin D per day. Discuss this with your physician.

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