These consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central.
The cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy.
A diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center.
这些关于怀疑和诊断ATTR淀粉样变性的共识建议是由一个由主要淀粉样变性专家组成的国际工作组通过一系列开发和审查周期制定的。该工作组开会讨论了早期和准确诊断ATTR淀粉样变性的障碍,并通过对使用PubMedCentral进行的文献进行彻底搜索来制定共识建议。
心脏和周围神经系统最常见的是ATTR淀粉样变性;然而,许多患者还经常经历胃肠道和其他全身性表现。鉴于症状的多系统性,ATTR淀粉样变性常被误诊为更常见的疾病,导致治疗开始明显延迟。尽管组织学评估一直是确认ATTR淀粉样变性的金标准,一系列的工具是可用的,可以促进早期和准确的诊断。重要的是,在对无法解释的周围神经病变患者进行评估时,应及早考虑进行基因检测.
基于最初的红旗症状和心脏或神经系统受累表现的诊断算法将有助于全科医生识别具有临床可疑症状的患者。使患者能够随后转诊到多学科专业医疗中心。