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Article

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

Journal of thrombosis and haemostasis : JTH - 1 Sept 2026

Gaetani Eleonora, Giovannetti Agnese, Di Martino Luigi, Liorni Niccolò, Caputo Viviana, Gasbarrini Antonio, Pola Roberto, Mazza Tommaso

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with an overwhelming hemorrhagic phenotype. It is mainly caused by variants in the ENG and ACVRL1 genes. HHT prevalence is currently estimated to be 1 in 5000 individuals, but the disease is likely underdiagnosed due to variable clinical presentation, misdiagnosis, and delayed recognition. OBJECTIVES: To estimate the global...

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Identifiers

PMID: 41610956
DOI: 10.1016/j.jtha.2025.12.025

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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