Living with Marfan Syndrome and your aorta
Research type
Research Study
Full title
Living with Marfan syndrome I: the psychosocial and health-related quality of life effects of the diagnosis for aorto-vascular manifestations (LIMA I Study)
IRAS ID
286206
Contact name
Julie Sanders
Contact email
Sponsor organisation
Queen Mary University of London
Clinicaltrials.gov Identifier
NCT04776668, ClinicalTrials.gov ID
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
Marfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Thus, MFS patients require lifelong cardiac surveillance. Living with a diagnosis of Marfan Syndrome and aorto-vascular manifestations affects patients' mental health, well-being and quality of life in ways that are not well understood.
This study will address the current gaps in our knowledge and will provide the information needed to design interventions for MFS patients with aorto-vascular problems to help improve their mental health, well-being and quality of life. It will include adult MFS patients who have been diagnosed with aorto-vascular problems.The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the diagnosis for aorto-vascular manifestations of MFS in 3 large UK cardiac centres. To achieve this, we will ask the potential participants, after obtaining informed consent, to complete a series of accepted/validated questionnaires which will help us measure the health-related quality of life (SF-36 and EQ5D questionnaire) and psychosocial factors such as depression (CES-D questionnaire), fatigue (Fatigue Severity Scale), stigma (Perceived Stigma Questionnaire), self-esteem (Rosenberg Self-esteem Scale), pain and illness perception (Illness Perception Questionnaire). We will also conduct a one-to-one semi-structured interview with some participants to identify factors important to patients that are not captured in the questionnaires used.
Summary of results
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. This study aims to determine the HRQoL and the psychosocial effects of the aortovascular manifestation of MFS.A mixed-method design was used in this study and it was conducted in one cardiac centre in England. 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.
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 which were confirmed in S2. A positive self-esteem was generally reported in S1, but this is not found in S2, which highlighted patients experience a loss of self-esteem due to perceived body image disturbance. Finally, S2 generated new evidences not identified in S1 including health anxiety, loss of personal efficacy, self-stigma and ‘invisible disability’ affecting work and socio-economic condition. These results are useful in developing interventions to improve care of MFS patients.
REC name
East Midlands - Derby Research Ethics Committee
REC reference
21/EM/0106
Date of REC Opinion
27 Apr 2021
REC opinion
Favourable Opinion