Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome

Eric W. Tan, Roosevelt U. Offoha, Gretchen L. Oswald, Richard Skolasky, Ashvin K. Dewan, Gehua Zhen, Jay Shapiro, Harry C Dietz, Xu Cao, Paul David Sponseller

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1910-1914
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number8
DOIs
StatePublished - Aug 2013

Fingerprint

Loeys-Dietz Syndrome
Bone Density
Incidence
Spine
Femur Neck
Photon Absorptiometry
Genetic Testing
Upper Extremity
Connective Tissue
Hip
Lower Extremity
Cross-Sectional Studies
Phenotype

Keywords

  • Bone mineral density
  • Fractures
  • Loeys-Dietz syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Increased fracture risk and low bone mineral density in patients with loeys-dietz syndrome. / Tan, Eric W.; Offoha, Roosevelt U.; Oswald, Gretchen L.; Skolasky, Richard; Dewan, Ashvin K.; Zhen, Gehua; Shapiro, Jay; Dietz, Harry C; Cao, Xu; Sponseller, Paul David.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 8, 08.2013, p. 1910-1914.

Research output: Contribution to journalArticle

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