Health-related quality of life and psychosocial effects of the diagnosis of aortovascular manifestations in Marfan syndrome patients: a qualitative study

Abstract

Abstract Funding Acknowledgements Type of funding sources: Other. Main funding source(s): Barts Charity Background Marfan Syndrome (MFS) is a rare autosomal-dominant connective tissue disorder with serious and life-threatening cardiovascular manifestations. Despite the severity of this life-long condition, there is very little evidence on the health-related quality of life (HRQoL) and psychosocial effects of living with MFS and no available evidence on the effect of the aortovascular manifestations. Purpose This study is part of a programme of work aiming to identify the HRQoL and the psychosocial factors affecting MFS patients following the diagnosis of an aortovascular manifestation. Methods This single site qualitative exploratory study was designed to identify quality of life issues affected by the aortovascular diagnosis in MFS from patients’ lived experience. Convenience sampling was employed for this study, with an expected sample size of 20 adult participants who had validated diagnosis of MFS using the revised Ghent criteria[1] and diagnosed with aortovascular manifestations. Interviews, lasting up to 1 hour, were conducted using a semi-structured interview schedule. Each interview was audio-taped and transcribed verbatim. Data saturation assessment was done using the Guest et al.[2] method. Data analysis was undertaken using the Framework method[3], which follows a seven-stage process Results Twenty interviews were undertaken, transcribed and analysed. Participants ranged from 24 to 71 years old (M = 39.6); were 55% male, were primarily Caucasian (n=17, 85%), and 80% completed secondary and post-secondary education. Majority were employed (n=12, 70%) and 40% had greater than average household income. The results identified that patient reported HRQoL and psychosocial factors affecting MFS patients following aortovascular diagnosis include: social and self-stigma, depression, social and health anxiety, loss of personal efficacy, financial burden, loss of self-esteem, worry in building a relationship or family and vital exhaustion. However, patients also expressed that the diagnosis led to disease acceptance, constructive engagement in coping with the condition and self-acceptance. Conclusion These results assist in better understanding the HRQoL and psychosocial factors that affect patients with MFS. This information can support the development of a patient care pathway that includes HRQoL and psychosocial aspects of care to provide a holistic and comprehensive service for this patient group.