Keywords: Clinical Genetics, Malformations and Dysmorphology, KW008 - BONE/JOINT ABNORMALITIES, KW016 - CHARACTERIZATION OF SYNDROMES, KW068 - GENOTYPE-PHENOTYPE CORRELATIONS, KW099 - NATURAL HISTORY, KW110 - PHENOTYPE

Abnormalities of the Spine and Reduced Bone Density in Vascular Ehlers-Danlos Syndrome. N. Obeng-Adjei¹, B.F. Griswold¹, L. Sloper¹, R. Raza³, C.A. Francomano², W. Chen¹, J. Yang¹, N.B. McDonnell¹ 1) LCI, NIA/NIH, Baltimore, MD; 2) GBMC, Baltimore, MD; 3) Harbor Hospital, Baltimore, MD.

   Type III collagen is present in fiber bundles in bone cortex, with highest concentrations at the Haversian canal surface and at the bone-periosteal interface. Vascular Ehlers-Danlos syndrome (VEDS) is caused by mutations in COL3A1 encoding procollagen III, and is associated with reduced life expectancy due to arterial or hollow organ rupture. The prevalence of spine abnormalities and reduced bone density in VEDS has not been reported previously in the literature. In fourteen consecutive patients (ages 14-55) with mutations in COL3A1 enrolled in the hereditary disorders of connective tissue study at the National Institutes of Health, we noted a high prevalence of dural ectasia (8/14) in research magnetic resonance imaging (MRI) of the lumbar spine. Lumbar or cervical spinal stenosis due to disc herniation was seen in 7/14 participants. Posterior fossa volume was reduced in 5/14 subjects, however herniation of the cerebellar tonsils into the foramen magnum was not seen. All subjects over 18 had reduced bone density; 6/12 had osteoporosis and 6/12 had osteopenia. The results suggest that assessment of bone density is indicated for VEDS patients starting in young adulthood and treatment needs to be initiated to reduce fracture risk. Lower back or neck pain in VEDS may be a result of spinal stenosis or dural ectasia, and needs to be evaluated with MRI imaging.