Lane Michael, Polydefkis Michael
Patient Author, Stilwell, KS, USA.
Department of Neuromuscular Medicine, Johns Hopkins Bayview Medical Center, Baltimore, MD, USA.
Neurol Ther. 2024 Dec;13(6):1527-1533. doi: 10.1007/s40120-024-00657-y. Epub 2024 Sep 6.
This article has been co-authored by a patient living with hereditary transthyretin (ATTRv) amyloidosis and a neurologist. This rare, progressive disease is associated with impairment of multiple organ systems, including the nerves, heart, and the gastrointestinal tract, forcing patients to live with and adapt to a range of debilitating symptoms. Here, the patient and physician discuss how the symptoms of ATTRv amyloidosis profoundly impact day to day life, the difficulties with identifying the disease, and how this effects the diagnosis experience. In recent years, significant advancements have been made in the treatment and management of ATTRv amyloidosis. However, the authors highlight the urgency of increasing awareness of the disease among the wider medical community, as well as in patients who notice the symptoms, to ensure that earlier diagnosis and appropriate treatment are achieved.
本文由一位患有遗传性转甲状腺素蛋白（ATTRv）淀粉样变性病的患者和一位神经科医生共同撰写。这种罕见的进行性疾病与包括神经、心脏和胃肠道在内的多个器官系统功能受损有关，迫使患者忍受并适应一系列使人衰弱的症状。在此，患者和医生讨论了ATTRv淀粉样变性病的症状如何深刻影响日常生活、疾病识别的困难以及这如何影响诊断体验。近年来，在ATTRv淀粉样变性病的治疗和管理方面取得了重大进展。然而，作者强调，提高广大医学界以及出现症状的患者对该疾病的认识非常迫切，以确保实现早期诊断和适当治疗。
