O'Dell John A, Walker Ash, Latham Andrew J, Parisian Daniel J, Branch Lindsay E, Vanderburg Dreena D, Cox Ava A, Chavis Shelley, Smith Silvia E
Department of Biology, University of North Carolina Pembroke, Pembroke, NC, USA.
Department of Kinesiology, University of North Carolina Pembroke, Pembroke, NC, USA.
J Patient Exp. 2025 Jan 21;12:23743735251314651. doi: 10.1177/23743735251314651. eCollection 2025.
Dysautonomia refers to any disorder involving altered function of the autonomic nervous system. Dysautonomia can be debilitating as it often affects multiple organ systems. The diagnostic journey for individuals affected by dysautonomia can be hindered by symptom overlap with other conditions and by limited access to autonomic specialists. The present patient-reported outcome study aims to characterize the diagnostic journey of 672 adult individuals affected by different types of dysautonomia. The average time to diagnosis was 7.7 years (SD 10 years) and diagnosis was made primarily by cardiologists, followed by neurologists, and internists or primary care physicians. Common comorbid conditions are Ehlers-Danlos syndrome, mast cell disorders, vitamin deficiency, fibromyalgia, and myalgic encephalomyelitis, all of which can contribute to the symptoms burden and can potentially confound the diagnostic process. We suggest that the prolonged time to diagnosis contributes to morbidity and compounds the psychological and economic burden of dysautonomia. Raising awareness about the numerous obstacles that hinder the diagnostic process among both clinicians and dysautonomia patients is the first step to reduce morbidity and improve clinical outcomes.
自主神经功能障碍是指任何涉及自主神经系统功能改变的疾病。自主神经功能障碍可能使人衰弱，因为它常常影响多个器官系统。自主神经功能障碍患者的诊断过程可能会受到与其他疾病症状重叠以及自主神经专科医生就诊机会有限的阻碍。目前这项患者报告结局研究旨在描述672名受不同类型自主神经功能障碍影响的成年患者的诊断过程。平均诊断时间为7.7年（标准差10年），主要由心脏病专家做出诊断，其次是神经科医生、内科医生或初级保健医生。常见的共病有埃勒斯-丹洛斯综合征、肥大细胞疾病、维生素缺乏、纤维肌痛和肌痛性脑脊髓炎，所有这些都会加重症状负担，并可能混淆诊断过程。我们认为诊断时间延长会导致发病率上升，并加重自主神经功能障碍的心理和经济负担。提高临床医生和自主神经功能障碍患者对阻碍诊断过程的众多障碍的认识，是降低发病率和改善临床结局的第一步。
