"MARFAN SYNDROME: A COMPREHENSIVE GUIDE TO PATHOGENESIS, DIAGNOSIS, TREATMENT AND MEDICAL MANAGEMENT"

Pharmacy

A varied autosomal dominant connective tissue disorder affecting various organ systems is called Marfan syndrome (MFS). Transformational growth factor-β (TGF-β) dysregulation is caused by causative mutations in the fibrillin-1 protein. A systematic evaluation that combines clinical and genetic factors can be used to diagnose MFS. Due of the wide range of musculoskeletal symptoms associated with the illness, patients may initially see orthopedic surgeons. Spine deformity, acetabular protrusion, limb length deformity, joint laxity, and foot pathology are common musculoskeletal symptoms of MFS. Major cardiac and ocular problems are examples of non-musculoskeletal symptoms.Routine cardiovascular imaging and β-adrenergic receptor blocker medication are staples of normal medical therapy. The latter is intended to slow down the rate of aortic development. Prophylactic surgical aortic replacement is carried out when aortic dilatation reaches a threshold linked to an increased risk of dissection. Prophylactic aortic surgery and beta-blockers are part of the usual treatment, which aims to prevent ascending aortic dilatation. The average life expectancy in Marfan syndrome has increased significantly, surpassing 72 years, thanks to the effectiveness of modern medicinal and surgical treatments for aortic illness. The life expectancy of individuals with MFS has increased dramatically with current clinical management; nonetheless, there is still no known cure and fatal complications can still occur, highlighting the need for novel treatment approaches. The goal of this review is to give a general overview of this condition.

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