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Fracture Rates in Adults with Neurofibromatosis Type 1

Azage, Meron Y., B.S.
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142

Abstract Details

2012, MS, University of Cincinnati, Medicine: Genetic Counseling.
About 30-50% of patients with Neurofibromatosis Type 1 (NF1) have disease involving the skeletal system. Osteoporosis and low bone density are common findings; however increased rate of fractures in patients with NF1 has not yet been established in a well-designed clinical study. The purpose of this study is to compare the prevalence of fractures between adults with NF1 and unaffected controls including unaffected siblings/spouses of these patients. We hypothesized that the NF1 cohort will have fracture rates that are higher than unaffected controls. A retrospective questionnaire was administered to 38 adults with NF1 and 36 unaffected adults. Participants were asked to report fractures that occurred during their lifetime as well as in the past 10 years. The number of fractures, the bone location, age of participant when the fracture occurred, cause of fracture (such as trauma), time for healing, treatment and complications were assessed. We stratified fracture rates in cases and controls for age and sex, and statistically adjusted for other risk factors such as ethnicity, body mass index (BMI), tobacco use, menopause status, level of physical activity and dietary calcium intake. While adults with NF1 had higher 10 year fracture rate than controls, the difference did not reach statistical significant. Given the relatively small sample size in this study, collection of additional data is warranted. Improving our understanding of skeletal phenotype of NF1 may change clinical management, improve standard of care of patients and inform future drug trials for bone disease.
Elizabeth Schorry, MD (Committee Chair)
Robert Hopkin, MD (Committee Member)
Lisa Martin, PhD (Committee Member)
11 p.
Genetics
Neurofibromatosis Type 1 (NF1); Adult; Fractures; Bone; Bone Mineral Density (BMD); Calcium;

Recommended Citations

Citations

  • Azage, M. Y. (2012). Fracture Rates in Adults with Neurofibromatosis Type 1 [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142

    APA Style (7th edition)

  • Azage, Meron. Fracture Rates in Adults with Neurofibromatosis Type 1. 2012. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142.

    MLA Style (8th edition)

  • Azage, Meron. "Fracture Rates in Adults with Neurofibromatosis Type 1." Master's thesis, University of Cincinnati, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142

    Chicago Manual of Style (17th edition)

ucin1337352142
429
© 2012, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.