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Article

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.

Haematologica - 1 Sept 2018

Kritharis Athena, Al-Samkari Hanny, Kuter David J

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include ENG, ACVRL1/ALK1, and MADH4/SMAD4, among others. Patients with HHT may have telangiectasias and...

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Identifiers

PMID: 29794143
DOI: 10.3324/haematol.2018.193003
PMCID: PMC6119150

Genes

ACVRL1
ENG
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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