Abstract

Background

Cardiac amyloidosis (CA) is often overlooked or misdiagnosed. Effects of growing disease awareness, diagnostic ameliorations and novel treatment options on CA diagnosis and management are scarcely reported.

Objective

To report trends in diagnosis, referral routes, clinical presentation, early onset diagnostic red flags and outcome in de novo CA subjects.

Methods

An unselected cohort of 139 de novo CA patients over an 8-year period in a tertiary referral hospital was recruited.

Results

Transthyretin (ATTR, 82%, n = 114) was the most common CA form; Light-chain (AL, 15%, n = 21) and secondary (AA, 3%, n = 4) are less prevalent. Increased awareness over time led to a marked ATTR diagnostic surge, steep non-invasive diagnostic approach increment and increased nuclear medicine and external cardiologist referrals (all p < 0.001). A total of 41% (n = 57/139) of patients were referred by non-cardiology specialist disciplines. Specific referral to rule out CA (24–36%) and diagnostic time lag from symptom onset (9 ± 12 to 8 ± 14 months), however, did not improve (all p > 0.050). Multiple early red flag events preceded CA diagnose several years in ATTR: Left ventricular hypertrophy (LVH, 60%, 4.9 ± 4.3 y), heart failure (54%, 2.5 ± 3.5 y), atrial fibrillation (47%, 5.9 ± 6.7 y), bilateral carpal tunnel syndrome (43%, 9.5 ± 5.7 y) and spinal stenosis (40%, 7.4 ± 6.5 y). LVH ≥ 12 mm was absent in 11% ATTR (n = 13/114) and 5% AL (n = 1/21) patients. Hypertension was common in both ATTR (n = 70/114, 62%) and AL (n = 10/21, 48%). 56% (n = 78/139) of CA presented with heart failure. Cumulative 1 and 5-year mortality of 10%/66%, 40%/52% and 75%/75% for ATTR, AL, and AA, respectively, remains high.

Conclusions

Although CA diagnostic uptake and referral improve, specialist-specific disease and diagnostic red flag ignorance result in non-timely diagnosis and unfavourable outcome.

中文翻译：

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新发心脏淀粉样变性的诊断、转诊、危险信号发作、患者概况和自然结果的趋势及其多学科意义

摘要

背景

心脏淀粉样变性 (CA) 经常被忽视或误诊。几乎没有报道疾病意识的提高、诊断的改进和新的治疗方案对 CA 诊断和管理的影响。

客观的

报告新发 CA 受试者的诊断趋势、转诊途径、临床表现、早期诊断危险信号和结果。

方法

招募了 8 年期间在一家三级转诊医院的 139 名新发 CA 患者的未经选择的队列。

结果

转甲状腺素蛋白（ATTR，82%，n  = 114）是最常见的 CA 形式；轻链（AL，15%，n  = 21）和二级（AA，3%，n  = 4）不太普遍。随着时间的推移，意识的提高导致显着的 ATTR 诊断激增、急剧的非侵入性诊断方法增加以及核医学和外部心脏病专家转诊的增加（所有p  < 0.001）。共有 41% ( n  = 57/139) 的患者由非心脏病专科转诊。专门转诊以排除 CA (24–36%) 和症状出现后的诊断时间滞后（9 ± 12 至 8 ± 14 个月），但是没有改善（所有p > 0.050)。在 ATTR 中 CA 诊断之前几年的多个早期危险信号事件：左心室肥厚（LVH，60%，4.9 ± 4.3 年），心力衰竭（54%，2.5 ± 3.5 年），心房颤动（47%，5.9 ± 6.7 年） )、双侧腕管综合症 (43%, 9.5 ± 5.7 岁) 和椎管狭窄症 (40%, 7.4 ± 6.5 岁)。11% ATTR ( n  = 13/114) 和 5% AL ( n  = 1/21) 患者不存在 LVH ≥ 12 mm 。高血压在 ATTR ( n  = 70/114, 62%) 和 AL ( n  = 10/21, 48%) 中都很常见。56% ( n  = 78/139) 的 CA 患者出现心力衰竭。ATTR、AL 和 AA 的累积 1 年和 5 年死亡率分别为 10%/66%、40%/52% 和 75%/75%，仍然很高。

结论

尽管 CA 诊断吸收和转诊有所改善，但专科疾病和诊断红旗无知导致不及时诊断和不利结果。