March 3, 2026Journal of Thrombosis and Haemostasis1 citationsOpen Access

Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases

EGEleonora Gaetani AGAgnese Giovannetti LMLuigi Di Martino

Key Points

Higher genetic prevalence of hereditary hemorrhagic telangiectasia (HHT) variants is identified in the population.
Utilizing large-scale genomic databases, the analysis reveals significant prevalence variations.
This assessment shows that current estimates of HHT variants are likely underestimated, impacting healthcare policies.
Findings highlight the need for increased awareness and screening for hereditary hemorrhagic telangiectasia.

Abstract

This study assesses the prevalence of HHT-associated variants in the general population. Our unbiased approach demonstrates that the genetic prevalence of the disease is substantially higher than currently estimated.

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