Vascular Anomalies and Treatments

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder in which mutations in genes such as *ENG*, *ACVRL1*, and *SMAD4* disrupt normal blood vessel formation, producing fragile tangles of vessels called arteriovenous malformations in the lungs, liver, brain, and lining of the nose. These malformations can cause recurrent nosebleeds, dangerous shunting of blood that bypasses the lungs, and organ damage—consequences that vary widely even among people carrying the same mutation, which suggests that additional genetic and environmental modifiers remain poorly understood. Current management combines genetic screening to identify at-risk family members with procedural interventions such as catheter-based embolization to seal off problematic vessels, though the timing and long-term durability of these treatments are still being refined. An active area of investigation is whether targeted therapies that block aberrant signaling in the TGF-β pathway can reduce disease burden systemically, potentially offering an alternative to repeated procedural care.

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Keywords

Hereditary Hemorrhagic TelangiectasiaDiagnosisManagementGeneticsPulmonary Arteriovenous MalformationsEmbolization