AB0843 HYPOVITAMINOSIS D IN A MARFAN POPULATION

Background Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in FBN1 gene on the long arm of chromosome 15. Information is often lacking regarding an increased risk of fractures and its management and prevention in patients with Marfan syndrome. In these patients reduced bone mineral density was rarely reported. A pivotal role in bone mineralization is played by Vitamin D. Objectives This study evaluates whether the reduction of the values of Vitamin D is present in Marfan patients. Methods 60 patients (pts) (28 M/32 F; age 15-75 mean age 46,2) with Marfan syndrome were studied. The patients were followed from the clinical and research regional Marfan Center in Florence, Italy. All pts met new Ghent criteria that identified ectopia lentis, thoracic aorta dilatation with Z score = or > 2 and a large group of systemic clinical features represented by cardiovascular, musculoskeletal, central nervous system (dural ectasia) pulmonary, cutaneous and ocular clinical manifestations (systemic features) reaching a score = or > 7 as major clinical criterion. Familiarity and the detection of a gene mutation (in MFS FBN1 gene displays a mutation in about 90% of patients) are also considered criteria necessary for Marfan diagnosis. Results 11/60 pts (18,3%) (5M/6F age 15-75 mean age 44,9) showed reduced values of Vitamin D. 6/11 pts (45,4%) (3M/3F age 15-56, mean age 34,1) showed very poor Vitamin D values (range 8.7 ng/ml – 13,17 ng/ml). Conclusion Our results suggests that Vitamin D may play an important role in bone metabolism in Marfan patients. These results need confirmation since further data are missing in literature. References [1] Trifiro G, Marelli S, Viecca M, Mora S, Pini A. Areal bone mineral density in children and adolescents with Marfan syndrome: evidence of an evolving problem. [2] Bone. 2015Apr;73:176-80. doi: 10.1016/j.bone.2014.12.006. Epub 2014 Dec 13. Disclosure of Interests Daniela Melchiorre: None declared, Elisa Pratelli: None declared, Renato Colombai: None declared, Marco Matucci-Cerinic Grant/research support from: Actelion, MSD, Pfizer, BMS, Chemomab, Sanipedia, Speakers bureau: Actelion, BMS; MSD, Janssen, Guglielmina Pepe: None declared