Ageing in Marfan syndrome

Aims: Marfan syndrome (MFS) is a dominantly inherited connective tissue disorder caused by mutations in the fibrillin-1 gene. Past research has focused on younger patients as lifespan was known to be significantly reduced. This study aims to describe the complications, including those affecting the eyes, heart and musculoskeletal system, faced by older survivors. Methods: All 2500 patient records from the National Marfan Syndrome Clinical Database were searched for suitable participants aged 50 or older. One hundred and fifty-six questionnaires were posted to patients with MFS. These patients were sent a detailed questionnaire regarding medical aspects of their disease. Those included in the study were sent questionnaires for spouses and friends (not blood relatives) to complete, to provide control data. Other age- and sex-matched controls were recruited locally. Results: Sixty questionnaires from patients with MFS (35%) were returned and eligible for inclusion in the study, comprising 28 female patients and 32 male patients with a median age of 57. We recruited 56 eligible controls. Our results revealed that patients over 50 years of age with MFS may be at a higher risk than previously assumed for retinal detachment (reported by 24% of our respondents) and cardiovascular abnormalities (42% have had past aortic surgery; 53% report palpitation). Lesser known complications were also reported, including cataract (reported by 27%). Conclusions: Medical practitioners should be aware of the range of complications that can occur in patients with MFS in addition to the normal ageing process. Health problems in MFS patients over 50 may require investigation and specific therapy earlier than in the normal ageing population, because of the degenerative nature of this genetic condition.