Logothetis Constantine N, Fernandez Joel, Laber Damian A
Department of Internal Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
Division of Cardiovascular Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
Case Rep Med. 2021 Dec 7;2021:2551964. doi: 10.1155/2021/2551964. eCollection 2021.
Amyloidosis is an underappreciated medical condition with symptoms camouflaging as common medical comorbidities leading to its underdiagnosis due to its systemic involvement. Despite common misconceptions, amyloidosis and its systemic comorbidities are more prevalent and treatable than previously acknowledged by the medical community. There are two major forms of amyloidosis: amyloid light-chain and transthyretin amyloidosis. Each of these have a distinct pathophysiology, diagnostic work-up, treatment, and prognosis. The patient described in this study was diagnosed with transthyretin cardiac amyloidosis months after presenting with heart failure of unknown etiology. Usually, clinicians presume that heart failure results from common comorbidities such as hypertension, diabetes, and hyperlipidemia. Here, the correct etiology was transthyretin cardiac amyloidosis. The patient had five admissions for heart failure symptoms prior to a physician identifying the etiology as cardiac transthyretin amyloidosis. After initiating the transthyretin stabilizer tafamidis, the patient did not experience another heart failure exacerbation. This vignette provides an example of the clinical presentation, diagnostic work-up, and treatment of a patient with cardiac transthyretin amyloidosis. The review of the literature focuses on the epidemiology, and clinical symptoms that should prompt an evaluation for cardiac amyloidosis as well as the diagnostic and therapeutic options are available. Transthyretin cardiac amyloidosis is a rare and underdiagnosed disease, while heart failure is a highly prevalent condition. This clinical vignette seeks to provide education and awareness to an overlooked medical disorder.
淀粉样变性是一种未得到充分认识的医学病症，其症状常伪装成常见的医学合并症，由于其全身性累及导致诊断不足。尽管存在常见的误解，但淀粉样变性及其全身性合并症比医学界此前所认识的更为普遍且可治疗。淀粉样变性主要有两种形式：淀粉样轻链和转甲状腺素蛋白淀粉样变性。每一种都有独特的病理生理学、诊断检查、治疗方法及预后。本研究中描述的患者在出现病因不明的心力衰竭数月后被诊断为转甲状腺素蛋白心脏淀粉样变性。通常，临床医生会认为心力衰竭是由高血压、糖尿病和高脂血症等常见合并症引起的。在此病例中，正确的病因是转甲状腺素蛋白心脏淀粉样变性。在医生确定病因是心脏转甲状腺素蛋白淀粉样变性之前，该患者因心力衰竭症状已住院五次。在开始使用转甲状腺素蛋白稳定剂塔法米地后，患者未再出现心力衰竭加重的情况。这个病例提供了一个心脏转甲状腺素蛋白淀粉样变性患者的临床表现、诊断检查及治疗的实例。文献综述聚焦于流行病学、应促使对心脏淀粉样变性进行评估的临床症状以及现有的诊断和治疗选择。转甲状腺素蛋白心脏淀粉样变性是一种罕见且诊断不足的疾病，而心力衰竭是一种非常普遍的病症。这个临床病例旨在对一种被忽视的医学病症进行教育并提高认识。
