转甲状腺素蛋白淀粉样变性心肌病患者自主神经功能障碍特征分析（THAOS）。
Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
机构信息
Institute for Neurological Research, FLENI, Buenos Aires, Argentina.
Unidade Corino Andrade, Hospital Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal.
出版信息
Amyloid. 2022 Sep;29(3):175-183. doi: 10.1080/13506129.2022.2043270. Epub 2022 Apr 22.
BACKGROUND
Autonomic dysfunction is common in transthyretin amyloidosis (ATTR amyloidosis), but its frequency, characteristics, and quality-of-life (QoL) impact are not well understood.
METHODS
The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, longitudinal survey of patients with ATTR amyloidosis, including patients with inherited (ATTRv) and wild-type (ATTRwt) disease and asymptomatic patients with mutations (ClinicalTrials.gov: NCT00628745). In a descriptive analysis, characteristics and Norfolk QoL-DN total (TQoL) scores at enrolment were compared in patients with vs without autonomic dysfunction (analysis cut-off: 1 August 2020).
RESULTS
Autonomic dysfunction occurred in 1181/2922 (40.4%) symptomatic patients, and more commonly in ATTRv (1107/1181 [93.7%]) than ATTRwt (74/1181 [6.3%]) amyloidosis. Time (mean [SD]) from ATTR amyloidosis symptom onset to first autonomic dysfunction symptom was shorter in ATTRv (3.4 [5.7] years) than ATTRwt disease (9.7 [10.4]). In ATTRv disease, patients with vs without autonomic dysfunction had worse QoL (TQoL, 47.3 [33.2] vs 16.1 [18.1]); in ATTRwt disease, those with vs without autonomic dysfunction had similar QoL (23.0 [18.2] vs 19.9 [20.5]).
CONCLUSIONS
Autonomic dysfunction was more common and presented earlier in symptomatic ATTRv than ATTRwt amyloidosis and adversely affected QoL in ATTRv disease. These THAOS findings may aid clinicians in diagnosing and treating patients with ATTR amyloidosis. ClinicalTrials.gov: NCT00628745.
背景
自主神经功能障碍在转甲状腺素蛋白淀粉样变性（ATTR 淀粉样变性）中很常见，但对其频率、特征和生活质量（QoL）的影响还不是很清楚。
方法
转甲状腺素蛋白淀粉样变性结局调查（THAOS）是一项正在进行的、全球性的、纵向调查，涉及 ATTR 淀粉样变性患者，包括遗传性（ATTRv）和野生型（ATTRwt）疾病患者以及有 突变的无症状患者（ClinicalTrials.gov：NCT00628745）。在一项描述性分析中，比较了有和无自主神经功能障碍的患者在入组时的特征和诺福克 QoL-DN 总分（TQoL）评分（分析截止日期：2020 年 8 月 1 日）。
结果
1181/2922（40.4%）有症状的患者发生自主神经功能障碍，在 ATTRv（1107/1181 [93.7%]）中比在 ATTRwt 淀粉样变性（74/1181 [6.3%]）中更常见。从 ATTR 淀粉样变性症状发作到首次出现自主神经功能障碍症状的时间（平均[标准差]）在 ATTRv 中较短（3.4[5.7]年），而在 ATTRwt 疾病中较长（9.7[10.4]年）。在 ATTRv 疾病中，有和无自主神经功能障碍的患者 QoL 较差（TQoL，47.3[33.2] vs 16.1[18.1]）；在 ATTRwt 疾病中，有和无自主神经功能障碍的患者 QoL 相似（23.0[18.2] vs 19.9[20.5]）。
结论
在有症状的 ATTRv 淀粉样变性中，自主神经功能障碍比 ATTRwt 淀粉样变性更常见，且更早出现，并对 ATTRv 疾病的 QoL 产生不利影响。这些 THAOS 发现可能有助于临床医生诊断和治疗 ATTR 淀粉样变性患者。ClinicalTrials.gov：NCT00628745。
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