Exploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods

The combination of chronic pain, fatigue, physical activity restrictions, and a potentially life-threatening disease poses significant challenge for individuals with syndromic Heritable Thoracic Aortic Disease (sHTAD). The primary aim of this study is to explore the interplay between chronic pain, fatigue, and physical activity in adults with sHTAD, how these factors affect daily life management. The intention is to draw on both patient-reported outcomes and the lived experiences of individuals with sHTAD to provide a comprehensive understanding of their challenges and coping strategies. A mixed-methods triangulation approach was employed, combining qualitative focus group interviews (n = 36), and a quantitative questionnaire (n = 52) including validated instruments measuring pain, fatigue, sleep problems, physical activity and multi-organ symptoms. The study primarily emphasizes the qualitative component to gain a deeper understanding of the participants` lived experiences. An overarching theme "Patients` Experiences and Coping" and three subthemes emerged from the triangulated data: (1) Health Challenges in Daily Life. 2) Balancing Chronic Pain and Fatigue with Physical Activity and Restrictions. 3) Interaction and Communication with Healthcare Providers. Quantitative analysis revealed that 79% of participants reported experienced chronic pain, while 58% reported fatigue. Both conditions were strongly associated to sleep disturbances and multi-organ involvement, with fatigue also associated with low physical activity and anxiety. The qualitative data supported these findings, with participants describing pain and fatigue as "energy drainers" that profoundly impacted family life and hindered work participation. They reported that managing the interplay of pain, fatigue, anxiety, and physical restrictions due to having a life-threatening disease as sHTAD was particularly challenging. Addressing pain and fatigue in the healthcare settings can be especially difficult in this population, as these symptoms may be overshadowed by concerns about life-threatening complications. Given the importance of physical activity in mitigating pain and fatigue, recognition and interventions aimed at breaking this vicious cycle are essential. The triangulation of quantitative and qualitative data highlights the profound impact of chronic pain and fatigue on individuals with sHTAD in association with the broader health complications. More research, along with an interdisciplinary approach that integrates both healthcare and social support system, is essential to address the physical, emotional, and psychosocial needs of these patients, ultimately improving their quality of life (QoL).