Abstract
BackgroundMarfan syndrome, a rare hereditary connective tissue disorder caused by mutations in fibrillin-1, can affect many organ systems, especially the cardiovascular system. Previous research has paid less attention to health-related quality of life and prospective studies on this topic are needed. The aim of this study was to assess changes in health-related quality of life after 10 years in a Norwegian Marfan syndrome cohort.MethodsForty-seven Marfan syndrome patients ≥ 18 years were investigated for all organ manifestations in the 1996 Ghent nosology and completed the self-reported questionnaire, Short-Form-36 Health Survey, at baseline in 2003–2004 and at follow-up in 2014–2015. Paired sample t tests were performed to compare means and multiple regression analyses were performed with age, sex, new cardiovascular and new non-cardiovascular pathology as predictors.ResultsAt 10-year follow-up: a significant decline was found in the physical domain. The mental domain was unchanged. Older age predicted a larger decline in physical health-related quality of life. None of the chosen Marfan-related variables predicted changes in any of the subscales of the Short-Form 36 Health Survey or in the physical or the mental domain.ConclusionKnowledge of decline in the physical domain, not related to organ affections, may be important in the follow-up of Marfan syndrome patients.
Highlights
Marfan syndrome (MFS) is a rare hereditary connective tissue disorder (HCTD), caused by mutations in fibrillin-1 (FBN1) (OMIM 134797)
For the non-responders, mental component summary (MCS) at baseline was 46.5 (SD 11.9) and physical component summary (PCS) at baseline was 40.3 (SD 12.8), which is similar to the scores of baseline cohort
At follow-up statistically significant decline was found in the subscales of physical functioning and bodily pain, with the largest decline in physical functioning, and a statistically significant decline was found for PCS, but not MCS (Fig. 1 and Table 2)
Summary
Marfan syndrome (MFS) is a rare hereditary connective tissue disorder (HCTD), caused by mutations in fibrillin-1 (FBN1) (OMIM 134797). Studies on HRQoL in MFS patients are mainly designed as cross-sectional studies, the quality are varying, the results diverging and in almost half of the studies, the participants do not have a verified diagnosis of MFS [10, 11]. A rare hereditary connective tissue disorder caused by mutations in fibrillin-1, can affect many organ systems, especially the cardiovascular system. Previous research has paid less attention to healthrelated quality of life and prospective studies on this topic are needed. The aim of this study was to assess changes in health-related quality of life after 10 years in a Norwegian Marfan syndrome cohort
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