Velvin Gry, Johansen Heidi, Bostrøm Katrine
TRS National Resource Centre for rare disorders, Research and Innovation Department, Sunnaas Rehabilitation Hospital, Nesodden, 1450, Norway.
Sci Rep. 2025 Aug 25;15(1):31320. doi: 10.1038/s41598-025-16184-1.
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).
慢性疼痛、疲劳、身体活动受限以及一种可能危及生命的疾病，给患有综合征性遗传性胸主动脉疾病（sHTAD）的个体带来了重大挑战。本研究的主要目的是探讨sHTAD成年患者慢性疼痛、疲劳和身体活动之间的相互作用，以及这些因素如何影响日常生活管理。目的是利用患者报告的结果和sHTAD患者的生活经历，全面了解他们面临的挑战和应对策略。采用了混合方法三角验证法，结合了定性焦点小组访谈（n = 36）和定量问卷调查（n = 52），问卷包括测量疼痛、疲劳、睡眠问题、身体活动和多器官症状的有效工具。该研究主要强调定性部分，以更深入地了解参与者的生活经历。三角验证数据中出现了一个总体主题“患者的经历与应对”以及三个子主题：（1）日常生活中的健康挑战。（2）在身体活动和限制之间平衡慢性疼痛和疲劳。（3）与医疗服务提供者的互动和沟通。定量分析显示，79%的参与者报告经历过慢性疼痛，58%的参与者报告有疲劳。这两种情况都与睡眠障碍和多器官受累密切相关，疲劳还与身体活动量低和焦虑有关。定性数据支持了这些发现，参与者将疼痛和疲劳描述为“精力消耗者”，深刻影响了家庭生活并阻碍了工作参与。他们报告说，由于患有像sHTAD这样危及生命的疾病，管理疼痛、疲劳、焦虑和身体限制之间的相互作用特别具有挑战性。在医疗环境中解决疼痛和疲劳问题对这一人群来说可能尤其困难，因为这些症状可能会被对危及生命的并发症的担忧所掩盖。鉴于身体活动在减轻疼痛和疲劳方面的重要性，认识到并采取干预措施以打破这种恶性循环至关重要。定量和定性数据的三角验证突出了慢性疼痛和疲劳与更广泛的健康并发症相关联时对sHTAD患者的深远影响。更多的研究以及整合医疗保健和社会支持系统的跨学科方法对于满足这些患者的身体、情感和心理社会需求至关重要，最终改善他们的生活质量（QoL）。
