Osteoporosis in adult with Marfan syndrome: casuality or causality?

Abstract

Nearly 100 years ago, Antoine Marfan first described a recurrent systemic disorder of connective tissue characterized by overgrowth of the long bones (1). It took an additional 50 years before ocular and cardiovascular manifestations were associated with this disorder, now termed Marfan syndrome (MFS). MFS is an inherited connective tissue disorder transmitted as an autosomal dominant trait. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic, or ethnic predilection (2). The disorder results from mutations in the fibrillin-1 (FBN1) gene located on chromosome 15q21.1(3). Approximately 15% of cases occur in the absence of a family history, representing new mutations; infact to date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases. However, about a half of MFS cases do not possess mutations in the FBN1 gene...