Vascular Anomalies and Treatments

Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder caused primarily by mutations in genes encoding proteins of the TGF-β signaling pathway, such as ENG, ACVRL1, and SMAD4, which disrupt the normal formation and maintenance of blood vessel walls. The resulting abnormal connections between arteries and veins—ranging from tiny telangiectases on the skin and mucous membranes to large pulmonary, hepatic, and cerebral arteriovenous malformations—can cause recurrent nosebleeds, chronic anemia, stroke, and heart failure, making early diagnosis and systematic organ screening essential. Current management centers on controlling symptoms like epistaxis and using catheter-based embolization to close dangerous pulmonary lesions, but treatment remains largely palliative rather than curative. Active research is exploring how specific genotype–phenotype relationships predict complication risk and whether targeted therapies that modulate angiogenic signaling, such as bevacizumab, can address the underlying vascular instability rather than simply its consequences.

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Keywords

Hereditary Hemorrhagic TelangiectasiaDiagnosisManagementGeneticsPulmonary Arteriovenous MalformationsEmbolization