Determining what matters most to Marfan syndrome (MFS) patients: a convergent mixed method study of the health-related quality of life and psychosocial effects of MFS aortovascular manifestations

Abstract

Background Marfan Syndrome (MFS) affects multiple organ systems but the aortovascular manifestations are the most serious and life-threatening. However, there is no available evidence on the effect of the aortovascular manifestations on health-related quality of life (HRQoL) and psychosocial wellbeing of MFS patients. Purpose This study aims to determine the HRQoL and the psychosocial effects of the aortovascular manifestation of MFS. Methods A convergent mixed-method design was used in this single site study. Specifically, the quantitative study (S1) is an observational exploratory study using seven validated questionnaires relating to HRQoL (SF36, EQ-5D-5L) and psychosocial health (depression [CESD], illness perception [IPQ], fatigue [FSS], self-esteem [RSES], stigma [PSQ]), previously used in MFS research. The qualitative study (S2) is an exploratory study using semi-structured interviews. Analysis consisted of descriptive and inferential statistics and Framework method1 for S1 and S2, respectively. Joint display was used for data integration. Results A total of 75 participants completed the questionnaires (S1) and 20 were interviewed (S2). The mean age was 43 years (S1) and 40 years (S2) and the majority (S1: 54 (72%); S2: 17 (85%)) were white British. S1 found the majority of MFS participants experienced depression, anxiety, pain and fatigue. These areas were confirmed in S2. A positive self-esteem was generally reported in S1, but this is not supported by S2, which highlighted patients experience a loss of self-esteem due to perceived body image disturbance. Finally, S2 generated new areas not identified in S1 including health anxiety, loss of personal efficacy, self-stigma and ‘invisible disability’ affecting work and socio-economic condition. Overall, the joint display generated three confirmed, seven expanded and one discordant finding. Conclusion MFS patients with aortovascular manifestations experienced several HRQoL and psychosocial issues related to their condition. Collaborative efforts are needed to develop multifaceted interventions and programs to address their needs and provide a holistic and comprehensive service for MFS patients. Finally, four new areas were identified in S2, which added important new evidence in this body of knowledge.