Conflict of interest: none.
Increased fracture risk and low bone mineral density in patients with loeys–dietz syndrome
Version of Record online: 4 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 1910–1914, August 2013
How to Cite
2013. Increased fracture risk and low bone mineral density in patients with Loeys–Dietz syndrome. Am J Med Genet Part A. 161A:1910–1914., , , , , , , , , .
- Issue online: 24 JUL 2013
- Version of Record online: 4 JUL 2013
- Manuscript Accepted: 15 APR 2013
- Manuscript Received: 19 DEC 2012
- Loeys–Dietz syndrome;
- bone mineral density;
Loeys–Dietz syndrome is a recently recognized connective tissue disorder with widespread systemic involvement. Little is known about its skeletal phenotype. Our goal was to investigate the risk of fracture and incidence of low bone mineral density in patients with Loeys–Dietz syndrome. We performed a cross-sectional, descriptive, survey-based study with subsequent chart review from July 2011 to April 2012. Fifty-seven patients (26 men, 31 women) with Loeys–Dietz syndrome confirmed by genetic testing completed the survey (average age, 25.3 years; range, 0.9–79.6 years). There were a total of 51 fractures (33 patients): 35 fractures in the upper extremities, 14 in the lower extremities, and two in the spine. Fourteen patients (24.6%) reported two or more fractures. There was a 50% risk of fracture by age 14 years. The incidence of any fracture in this cohort was 3.86 per 100 person-years. Seventeen patients had dual-energy X-ray absorptiometry scans available for review, 11 (64.7%) of whom had at least one fracture. Thirteen included lumbar spine absorptiometry reports; eight (61.5%) indicated low or very low bone mineral density. In the left hip, ten of 14 participants (71.4%) had low or very low bone mineral density. In the left femoral neck, nine of 13 participants (69.2%) had low or very low bone mineral density. The lowest Z- and T-scores were not associated with an increased number of fractures. Patients with Loeys–Dietz syndrome have a high risk of fracture and a high incidence of low bone mineral density. © 2013 Wiley Periodicals, Inc.