a CHLN-Hospital Santa Maria, IMM, Unversidade de Lisboa , Lisbon , Portugal.
b Unidade Corino de Andrade, Hospital de Santo António, Centro Hospitalar Universitário do Porto , Porto , Portugal.
Amyloid. 2019 Sep;26(3):103-111. doi: 10.1080/13506129.2019.1627312. Epub 2019 Jul 24.
Timely diagnosis of hereditary variant transthyretin (ATTRv) amyloidosis is critical for appropriate treatment and optimal outcomes. Significant differences are seen between patients receiving treatment and those who are not, though disease progression may continue despite treatment in some patients. Healthcare professionals caring for patients with ATTRv amyloidosis therefore need reliable ongoing assessments to understand the continuing course of disease and make appropriate treatment choices on an individual basis. Various signs and symptoms experienced by patients may be evaluated as indicators of disease progression, though there is currently no validated score that can be used for such ongoing assessment. Recognizing this situation, a group of clinicians highly experienced in ATTR amyloidosis developed an approach to understand and define disease progression in diagnosed and treated patients with ATTRv amyloidosis. The suggested approach is based on the recognition of distinct phenotypes which may usefully inform the particular tools, tests and investigations that are most likely to be appropriate for individual patients. It is aimed at implementing appropriate and ongoing assessment of patients being treated for ATTRv amyloidosis, such that the effectiveness of management can be usefully assessed throughout the course of disease and management can be tailored according to the patient's requirements.
及时诊断遗传性变异转甲状腺素蛋白（ATTRv）淀粉样变对于进行适当的治疗和获得最佳的结果至关重要。接受治疗的患者和未接受治疗的患者之间存在显著差异，尽管在一些患者中，尽管进行了治疗，疾病仍可能继续进展。因此，照顾 ATTRv 淀粉样变患者的医疗保健专业人员需要进行可靠的持续评估，以了解疾病的持续进程，并根据个体情况做出适当的治疗选择。患者可能会经历各种体征和症状，可以将其评估为疾病进展的指标，但目前尚无经过验证的评分可用于此类持续评估。鉴于这种情况，一组在 ATTR 淀粉样变方面经验丰富的临床医生制定了一种方法，以了解和定义诊断和治疗的 ATTRv 淀粉样变患者的疾病进展情况。所建议的方法基于对不同表型的认识，这些表型可能有助于确定最适合个别患者的特定工具、测试和检查。其目的是对接受 ATTRv 淀粉样变治疗的患者进行适当的持续评估，以便在疾病过程中评估管理的有效性，并根据患者的需求调整管理。
