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Updated: Jul 4, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Multiorgan Dysfunction and Associated Prognosis in Transthyretin Cardiac Amyloidosis
Adam Ioannou1, Christian Nitsche1, Aldostefano Porcari1,2
1National Amyloidosis Centre University College London London United Kingdom.
Blood biomarker abnormalities are common in transthyretin cardiac amyloidosis (ATTR-CA) and independently predict mortality. Targeting these markers may improve outcomes in this progressive heart failure condition.
Area of Science:
- Cardiology
- Biomarkers
- Amyloidosis
Background:
- Transthyretin cardiac amyloidosis (ATTR-CA) is a fatal cardiomyopathy.
- The prognostic significance of multiorgan dysfunction biomarkers in ATTR-CA is poorly understood.
Purpose of the Study:
- To characterize ATTR-CA using blood biomarkers.
- To assess the association between these biomarkers and patient prognosis.
Main Methods:
- Retrospective cohort study of 2566 ATTR-CA patients (2007-2023).
- Analysis of common blood biomarkers including urea, alkaline phosphatase, troponin, and C-reactive protein.
- Multivariable Cox regression to determine independent predictors of mortality.
Main Results:
- Anemia, high urea, hyperbilirubinemia, elevated alkaline phosphatase, and troponin were prevalent.
- These abnormalities were more common in p.(V142I) hereditary ATTR-CA and with increased cardiac disease severity.
- Anemia, high urea, hyperbilirubinemia, elevated alkaline phosphatase, hyponatremia, and high troponin-T independently predicted mortality.
Conclusions:
- Biomarker abnormalities are common in ATTR-CA, reflecting its complex nature.
- Several biomarkers are independently associated with mortality in ATTR-CA patients.
- Further clinical trials are needed to explore if targeting these biomarkers can improve outcomes.
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