Health-related quality of life in Marfan syndrome: a 10-year follow-up
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RESEARCH
Health‑related quality of life in Marfan syndrome: a 10‑year follow‑up Thy Thy Vanem1,2* , Svend Rand‑Hendriksen1,3, Cathrine Brunborg4, Odd Ragnar Geiran1,2 and Cecilie Røe1,5
Abstract Background: Marfan 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 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. Methods: Forty-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. Results: At 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 Marfanrelated variables predicted changes in any of the subscales of the Short-Form 36 Health Survey or in the physical or the mental domain. Conclusion: Knowledge of decline in the physical domain, not related to organ affections, may be important in the follow-up of Marfan syndrome patients. Keywords: Marfan syndrome, Follow-up, Health-related quality of life, SF-36 Introduction Marfan syndrome (MFS) is a rare hereditary connective tissue disorder (HCTD), caused by mutations in fibrillin-1 (FBN1) (OMIM 134797). The diagnosis is based on clinical criteria and DNA sequencing. Population based prevalence has been reported between 4.6 and 10.2 per 100,000 [1–3]. MFS can affect many organ systems, among them the cardiovascular system with manifestations such as aortic dilatation and aortic dissection; the ocular system; the skeletal system; the dura mater; the pulmonary system and the skin and integuments. Organ *Correspondence: [email protected] 1 Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway Full list of author information is available at the end of the article
manifestations seem to progress throughout life [4–6]. Although life expectancy has increased since the 1970’s [7], it is still shortened in MFS patients, mainly due to aortic and other cardiovascular affections [1, 8]. Research on MFS has focused on organ affections, molecular pathogenesis and surgical and medical management [9], with less attention to health-related quality of life (HRQoL) [10]. As treatment has improved and life expectancy has increased, more knowledge is needed regarding HRQoL and psychosocial consequences of living with this chronic condition. Studies on HRQoL in MFS patients are mainly designe
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