Though fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is not, in and of itself, a fatal condition, the many complications associated with this chronic and rare disease can occasionally be life threatening. One example of a potentially fatal complication is scoliosis, the sideways curvature of the spine, which can affect FD patients. If left unmanaged, severe scoliosis can prove to be fatal.
A recent research paper, lead by FDF advisor Dr. Alison Boyce of the National Institutes of Health (NIH), looked at the threat of scoliosis and analyzed several methods of managing the condition. Dr. Boyce worked alongside researchers from Tufts University, Boston College, Nemours Children’s Health Center, and several other NIH researchers to study this question. They looked at 138 patients, 84 of whom had scoliosis ranging from mild (55 patients) to moderate (11 patients) to severe (18 patients).
“We found that the risk of scoliosis is highly correlated with a patient’s overall disease burden,” explained Dr. Boyce, “this means that the more bones affected by FD, the more likely that patient is to also experience some degree of scoliosis.” Other risk markers include leg length discrepancy, hip range of motion, and strength of the gluteus medius and maximus. Although the study indicates that the majority of patients likely have some degree of scoliosis, Dr. Boyce highlights there are some well-established steps FD/MAS patients can take that may prevent their scoliosis from becoming severe, including addressing leg-length discrepancies and particular hormone issues like FDF23-mediated hypophosphatemia and hyperthyroidism: “It’s important for patients to see physiatrist and also seek treatment for any endocrine disease issues which may exacerbate spine curvature,” said Dr. Boyce.
The researchers analyzed the progression of 69 patients, patients who had a series of radiographs taken over time, to learn if other treatments were useful in slowing the progression of FD/MAS. The 69 patients pursued a variety of management options, including bisphosphonates, spinal fusion (operative treatment), and no treatment, and the researchers wanted to know what outcomes were related to the different treatments. “Bisphosphonate use didn’t appear to change the progression of scoliosis for FD/MAS patients . The progression and severity of scoliosis was similar for people who took bisphosphonates and people who went untreated.” said Dr. Boyce, “There were 10 patients who were treated with spinal fusion, one of these patients did experience instrumentation failure, but 9 were able to maintain a stable spine for the 6 years we observed them. There were two fatalities in the group due to complications associated with scoliosis, and both of these patients were managed non-operatively.”
“The findings reaffirm that FD patients, especially those with polyostotic FD, should monitor bone lesion growth carefully,” Said Dr. Boyce, “There is no indication that bisphosphonates help, but spinal fusion for patients with severe scoliosis does seem to be an effective way to stop the progression of scoliosis and prevent further complications, including death.”
FDF encourages patients who are concerned about the curvature of their spine to seek the care of a knowledgeable doctor who has experience treating patients with FD/MAS. The primary risk factor identified in this study for progressive scoliosis was total disease skeletal burden (i.e. how much of your skeleton is affected by FD), underlining the importance of the recommendation in FDF’s Treatment Guidelines that FD/MAS patients receive a full body scan to understand which bones are affected by FD, and to monitor those lesions over time, rescanning every several years.
To read the full research article, or to print it out to bring to your doctor, click here.