Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management

Marfan syndrome is a hereditary connective tissue disorder that is caused by pathogenic variants in the FBN1 gene and is traditionally known to have cardiovascular and ocular presentations. There has been growing data showing that bone quality impairment and decreased bone mineral density are significant but undervalued factors of the illness. Osteoporosis in patients with Marfan syndrome can develop earlier, follow different pathways, and lead to an increased risk of fragility fractures in comparison with those in the general population. The present narrative review is a critical evaluation of the existing knowledge of bone health in Marfan syndrome and includes the underlying molecular pathways of skeletal fragility, the impact of skeletal abnormalities and biomechanical changes, and how growth-factor malregulation can drive bone remodeling. Diagnostic analysis has been difficult given the overlapping musculoskeletal abnormalities, and requires a holistic evaluation including clinical examination, and imaging on cases like the dual-energy X-ray absorptiometry, and genetic analysis where necessary. Traditional treatments of osteoporosis can increase bone density, but not completely correct the connective tissue defects or disease-specific determinants of bone weakness. On the other hand, pharmacologic agents that are regularly used in the treatment of cardiovascular protection in Marfan syndrome have little to contribute to bone health, which highlights the urgency of skeletal-specific therapeutic interventions. The risk of fractures and the importance of reducing it, as well as maintenance of long-term musculoskeletal function, require early screening, individualized management, and multidisciplinary care. Anatomical and biomechanical factors that cause osteoporosis in this at-risk group are unique, and further studies are needed to design therapeutic approaches that would respond to these factors.