Department of Internal Medicine, University of Utah Health, Salt Lake City, UT, USA.
Department of Neurology, Oregon Health & Science University, Portland, OR, USA.
Heart Fail Rev. 2022 May;27(3):785-793. doi: 10.1007/s10741-021-10080-2. Epub 2021 Feb 20.
Amyloid transthyretin (ATTR) amyloidosis is a clinically heterogeneous and fatal disease that results from deposition of insoluble amyloid fibrils in various organs and tissues, causing progressive loss of function. The objective of this review is to increase awareness and diagnosis of ATTR amyloidosis by improving recognition of its overlapping conditions, misdiagnosis, and multiorgan presentation. Cardiac manifestations include heart failure, atrial fibrillation, intolerance to previously prescribed antihypertensives, sinus node dysfunction, and atrioventricular block, resulting in the need for permanent pacing. Neurologic manifestations include progressive sensorimotor neuropathy (e.g., pain, weakness) and autonomic dysfunction (e.g., erectile dysfunction, chronic diarrhea, orthostatic hypotension). Non-cardiac red flags often precede the diagnosis of ATTR amyloidosis and include musculoskeletal manifestations (e.g., carpal tunnel syndrome, lumbar spinal stenosis, spontaneous rupture of the distal tendon biceps, shoulder and knee surgery). Awareness and recognition of the constellation of symptoms, including cardiac, neurologic, and musculoskeletal manifestations, will help with early diagnosis of ATTR amyloidosis and faster access to therapies, thereby slowing the progression of this debilitating disease.
淀粉样变转甲状腺素蛋白（ATTR）淀粉样变性是一种临床表现多样且致命的疾病，由不溶性淀粉样纤维在各种器官和组织中沉积导致，从而引起进行性功能丧失。本文的目的是通过提高对其重叠病症、误诊和多器官表现的认识，提高对 ATTR 淀粉样变性的认识和诊断，心脏表现包括心力衰竭、心房颤动、对先前开的降压药不耐受、窦房结功能障碍和房室传导阻滞，导致需要永久性起搏。神经表现包括进行性感觉运动神经病（例如，疼痛、无力）和自主神经功能障碍（例如，勃起功能障碍、慢性腹泻、直立性低血压）。非心脏性红色标志通常先于 ATTR 淀粉样变性的诊断，包括肌肉骨骼表现（例如，腕管综合征、腰椎狭窄、肱二头肌远端肌腱自发性破裂、肩部和膝关节手术）。对包括心脏、神经和肌肉骨骼表现在内的一系列症状的认识和认识将有助于早期诊断 ATTR 淀粉样变性，并更快地获得治疗，从而减缓这种使人衰弱的疾病的进展。
