Late Consequences of Lifting Heavy Weights by an Individual with Belated Diagnosis of Marfan Syndrome

Introduction: Marfan syndrome (MS) is a genetic disorder with weakening of connective tissue, tall stature, thinness, arachnodactyly, long arms and legs. Clinical manifestations may include a wide range of cardiovascular, ocular, and musculoskeletal derangements. The case presented here is unique because it describes consequences of belated diagnosis of moderately expressed MS. Such cases are probably often overlooked and underreported. Case Presentation: This case reports a 68-year-old patient with symptoms of MS and corresponding family history, who presented with progressing prolaps of lower abdominal wall, perineal descent, femoral hernia and foot edema on the site of the hernia. MS was diagnosed at the age of over 30 years. Before that, the patient worked in construction and was engaged in other activities, including lifting of heavy weights. Apart from wearing a bandage, no therapeutic interventions have been implemented so far. Conclusion: Patients with MS should avoid heavy weight lifting. Importance of timely diagnosis of MS and genetic counseling of individuals at risk is stressed.