What is Brittle Bone Syndrome?

PJ Hamel Health Guide
  • Best-selling author Jodi Picoult’s 2009 novel, Handle with Care, tells the story of Willow, born with a condition that will cause multiple broken bones as she grows – and ensure a lifetime of pain.

    According to Picoult’s Web site, “Handle With Care explores the knotty tangle of medical ethics and personal morality. When faced with the reality of a fetus who will be disabled, at which point should an OB counsel termination? Should a parent have the right to make that choice? How disabled is TOO disabled?”

    And just what is this disabling disease around which Picoult builds her novel?

    Osteogenesis Imperfecta, a.k.a. Brittle Bone Syndrome, or Brittle Bone Disease.

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    Are you worried that a recent broken bone, or a DEXA scan with out-of-sight T-scores, might signal that you have OI?

    Well, chances are that osteoporosis is the cause, not OI.

    But if you’re being treated for osteoporosis, and despite the lifestyle changes, supplements, careful eating, and heavy-duty drugs, your condition continues to deteriorate – you might consider getting tested for Brittle Bone Disease.

    While Willow, the fictional character mentioned above, has a severe form of the disease, there are many milder forms that aren’t identified until later in life – if at all. About 25,000 to 50,000 Americans are affected by OI; it’s hard to pin down an exact number, due to the difficult diagnosis of OI’s mildest cases.

    OI is a genetic disease, though in about 35% of cases it’s caused by a spontaneous mutation of the genes, rather than inheritance. Unlike osteoporosis, OI isn’t caused by lack of calcium; instead, it’s collagen, the substance that keeps bones flexible, that’s missing in those with OI. 

    This lack of collagen can cause not only broken bones, but a series of symptoms ranging from bleeding and hearing loss to muscle weakness, lung problems, and curvature of the spine. Again, though, these issues are more prevalent in those with an acute form of the disease.

    What about those with its mildest forms? Could your chronic, deteriorating osteoporosis actually be an undiagnosed case of OI?

    If you suspect it might be, here are some steps to take.

    First, determine if you really are a possible candidate for OI. Dr. Christina Lasich, one of the experts on this site, offers the following symptoms as reasons to test for OI:

    •Strong family history of fragile bones;
    •Bone density not responsive to oral treatment with bisphosphonates;
    •Associated symptoms of OI, including hearing loss; a bluish tint to the whites of your eyes; loose joints; loss of height, and spinal curvature;
    •Early onset (pre-menopausal) of fragile fractures and abnormal bone density.

    If you meet any of the above criteria, find a bone specialist; your family doctor isn’t equipped to make this diagnosis. You’ll need a combination of X-rays, bone biopsies, blood work, and genetic testing, all under the direction of a bone specialist, to determine if you have Brittle Bone Disease.

    And what if you do?

  • The sad news is, there’s no cure. But the lifestyle changes you make to deal with osteoporosis – a healthy diet, exercise (under supervision), and sufficient levels of vitamin D and calcium – certainly won’t hurt, even if you have OI. And researchers are continuing to work on drug therapy; bisphosphonates might, in fact, be useful in some as-yet-undetermined form and dosage.

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    Is it osteoporosis… or Brittle Bone Disease? Probably the former. But if your bone issues aren’t responding to treatment, don’t be afraid to research OI. Better to know there’s a reason behind your lack of progress with treatment, rather than to keep wondering what’s wrong.


Published On: May 23, 2011