A Case of Osteogenesis Imperfecta?

  • An interesting comment came in recently that reads as follows:


    At age 55 Drs. found I had serious osteoporosis. Began with Didronel, then took Fosamax off and on for almost 20 yrs. Tests continued at severe low level. Began Boniva two years ago and stopped because no one could help me figure out if it helped. I was experiencing severe pain on my right side after taking the once a month pill. In last ten years, I have lost 4 inches of height and now my ribs seem to be down on my hip bone--right side--and Drs. have decided I also have scoliosis. I have been breaking small bones, and have been told that the bone has worn away on my neck.  The operation to stabilize my neck has been recommended but it seems pretty fearsome! At this stage of the game, I don't trust doctors to know what they are throwing at their patients. No one has sat down and shown me any improvement from Fosamax OR Boniva. This is beginning to scare me as I am not young--77--but I have more to live for and I am not convinced that anything current will help. I don't take medications. I eat well and take calcium and Omegas along with vitamins. I live on the Oregon Coast in a climate that has been horrendously wet and cold this year and I have finally begun to get pain from the osteoarthritis that was diagnosed 20 years ago. No one talks to me about the yearly tests I take. My dilemma is faced by many women in this area! Question: Do I change back to Fosamax? Or stay with Boniva? Most importantly, how do I get these doctors to care about what they throw at me?????  Can't write my own prescriptions, so I have to convince them that I need help!

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    Severe osteoporosis that is not responsive to oral Bisphosphonates like Boniva, Actonel and Fosamax, loss of height with significant spinal curvature, and multiple fragile fractures; these are all enough reason to be scared and leery. And all of this history is strongly suggestive of Osteogenesis Imperfecta  (OI) and a good reason to seek specialty care in a Bone and Mineral Disease Clinic (That was essentially my response to her comment also). This genetic bone disease can easily be mistaken for mundane menopausal osteoporosis especially in its mild, nearly asymptomatic form. So, it is important to be aware of Oseogenesis Imperfecta before getting swept in to the mundane wastebasket.


    Osteogenesis Imperfecta is a genetic bone disease that affects the quality and density of bone. In its most severe form, a fetus will experience severe skeletal malformation and fractures. In its mildest form, a middle aged adult will begin experiencing "fragile fractures", fractures that are not associated with trauma. On this continuum lies a whole range of individuals who may or may not know that he/she has this bone disease. Knowing whether or not one has OI is important for both treatment and inheritance potential.


    Family history is very important for making the diagnosis of Osteogenesis Imperfecta; although, this disease can arise from spontaneous mutation and not the previous generation.  If family history is not helpful, then the patient history and physical examination are the keys to determining the cause of fragile bones. In these recent, modern times, the examination not only includes X-rays, bone biopsies and laboratory studies, the examination may also include genetic testing. Every year genetic testing gets more and more accurate and accessible for diagnosing Osteogenesis Imperfecta. When genetic testing is not available, laboratory testing can possibly shed some light using bone markers in the blood. Most importantly, doctors and patients need to figure out who needs special testing. Here are some possible reasons to consider testing for Osteogenesis Imperfecta among other causes of osteoporosis:

    • Strong family history of fragile bones
    • Bone density not responsive to oral treatment with bisphosphonates
    • Has associated symptoms of OI such as: hearing loss, blue sclera, ligamentous laxity, loss of height, and spinal curvature
    • Early onset (pre-menopausal) of fragile fractures and abnormal bone density

    The important message here is to find a bone specialist when in doubt, sooner rather than later. With many different causes of osteoporosis including Osteogenesis Imperfecta, it is a shame that this poor woman finally got a reasonable answer after 24 years of frustration. How long would you wait? How long would you wait? You may not want to wait on your doctor for very long because many doctors treat the numbers without worrying about the cause. The bone density numbers are only part of the puzzle. So before you are tossed into the "menopausal osteoporosis" wastebasket, ask some questions and get some answers.

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Published On: May 20, 2010