About Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is a vascular dysplasia syndrome caused by heterozygous loss-of-function mutations in genes encoding components of the TGF-beta/BMP signaling pathway, most commonly ENG (endoglin, HHT type 1) or ACVRL1 (activin receptor-like kinase 1, HHT type 2), leading to abnormal arteriovenous connections in multiple organs. These arteriovenous malformations (AVMs) most frequently affect the nasal mucosa, gastrointestinal tract, lungs, liver, and brain, causing recurrent hemorrhage and in severe cases high-output cardiac failure or paradoxical embolism. The diagnosis is clinical using the Curacao criteria and confirmed by genetic testing.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Hereditary Hemorrhagic Telangiectasia trials.
Confirmed HHT diagnosis using Curacao criteria (at least 3 of 4: epistaxis, telangiectasias, visceral AVMs, family history) or genetic mutation identification is required for most trials; bring genetic test results and imaging of AVMs.
Severity of epistaxis (frequency, duration, transfusion dependence, Epistaxis Severity Score) and iron deficiency status are primary outcomes in antiangiogenic therapy trials including bevacizumab and thalidomide studies.
Screening for pulmonary and cerebral AVMs is recommended before enrollment in any study involving systemic agents, as untreated large pulmonary AVMs increase procedural risk.
Patient Resources
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