Scholarlink

Introduction <p>Timely diagnosis and treatment are essential for improving outcomes and quality of life in patients with transthyretin (ATTR) amyloidosis. Early multisystem manifestations are often unrecognized, leading to diagnostic delays and misdiagnosis. Large-scale, multicountry, observational studies are needed to better characterize the real-world trajectory of these patients.</p> Methods <p>OverTTuRe, an ANTHOLOGY study, is a retrospective, observational, descriptive, longitudinal, multicountry study using secondary data from claims databases, electronic health records, and healthcare registries. The primary aim of this analysis was to characterize baseline characteristics, early clinical manifestations, and outcomes in patients with hereditary transthyretin (ATTRv) amyloidosis from the United States (US), United Kingdom (UK), Japan, Denmark, and Sweden.</p> Results <p>Of 1502 patients identified, the predominant phenotype across countries was ATTRv amyloidosis with polyneuropathy (ATTRv-PN 51.3–63.7%); however, many patients had ATTRv with mixed phenotype (ATTRv mixed 36.3–48.8%). Compared to patients with ATTRv mixed, patients with ATTRv-PN were younger, and a higher proportion were female (36.6–64.1% vs. 19.3–56.4%). Median (interquartile range) time from any initial cardiac or noncardiac manifestation to diagnosis varied across countries; time from any noncardiac manifestation to diagnosis was longest for both phenotypes in the US (ATTRv-PN 2.9 [1.0–4.0] years; ATTRv mixed 2.4 [0.8–3.7] years). Following diagnosis, treatment was not available for most patients. Mortality (ATTRv-PN 14.6–36.2%; ATTRv mixed 21.0–73.0%) and hospitalization (ATTRv-PN 23.5–66.2%; ATTRv mixed 20.8–70.5%) risk varied across countries in the 5&#xa0;years following diagnosis. Pre- and post-diagnosis healthcare resource utilization was high for both phenotypes.</p> Conclusions <p>These findings highlight the heterogeneity of clinical manifestations and outcomes of ATTRv amyloidosis across phenotypes and countries. Patients frequently experience diagnostic delays and numerous healthcare interactions. Elevated clinical suspicion to facilitate earlier diagnosis, together with a multidisciplinary care approach and timely access to targeted therapies, is needed to improve outcomes.</p> Trial Registration <p>ClinicalTrials.gov identifier NCT06355934.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Contemporary Description of Clinical Characteristics and Outcomes in Patients with Hereditary ATTR Amyloidosis: Results from the Multicountry OverTTuRe Study

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月27日

查看全文
  • Kevin M. Alexander,
  • Shun Kohsaka,
  • Steen Hvitfeldt Poulsen,
  • Astrid J. Terkelsen,
  • J. Gustav Smith,
  • Johan Sundström,
  • Jason Wright,
  • Krister Järbrink,
  • Arti Gauvri Bhimjiyani,
  • Laura Davis,
  • Yuya Matsue,
  • Lisa J. Anderson,
  • Björn Pilebro

摘要

Introduction

Timely diagnosis and treatment are essential for improving outcomes and quality of life in patients with transthyretin (ATTR) amyloidosis. Early multisystem manifestations are often unrecognized, leading to diagnostic delays and misdiagnosis. Large-scale, multicountry, observational studies are needed to better characterize the real-world trajectory of these patients.

Methods

OverTTuRe, an ANTHOLOGY study, is a retrospective, observational, descriptive, longitudinal, multicountry study using secondary data from claims databases, electronic health records, and healthcare registries. The primary aim of this analysis was to characterize baseline characteristics, early clinical manifestations, and outcomes in patients with hereditary transthyretin (ATTRv) amyloidosis from the United States (US), United Kingdom (UK), Japan, Denmark, and Sweden.

Results

Of 1502 patients identified, the predominant phenotype across countries was ATTRv amyloidosis with polyneuropathy (ATTRv-PN 51.3–63.7%); however, many patients had ATTRv with mixed phenotype (ATTRv mixed 36.3–48.8%). Compared to patients with ATTRv mixed, patients with ATTRv-PN were younger, and a higher proportion were female (36.6–64.1% vs. 19.3–56.4%). Median (interquartile range) time from any initial cardiac or noncardiac manifestation to diagnosis varied across countries; time from any noncardiac manifestation to diagnosis was longest for both phenotypes in the US (ATTRv-PN 2.9 [1.0–4.0] years; ATTRv mixed 2.4 [0.8–3.7] years). Following diagnosis, treatment was not available for most patients. Mortality (ATTRv-PN 14.6–36.2%; ATTRv mixed 21.0–73.0%) and hospitalization (ATTRv-PN 23.5–66.2%; ATTRv mixed 20.8–70.5%) risk varied across countries in the 5 years following diagnosis. Pre- and post-diagnosis healthcare resource utilization was high for both phenotypes.

Conclusions

These findings highlight the heterogeneity of clinical manifestations and outcomes of ATTRv amyloidosis across phenotypes and countries. Patients frequently experience diagnostic delays and numerous healthcare interactions. Elevated clinical suspicion to facilitate earlier diagnosis, together with a multidisciplinary care approach and timely access to targeted therapies, is needed to improve outcomes.

Trial Registration

ClinicalTrials.gov identifier NCT06355934.