Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, characterized by recurrent epistaxis, cutaneous and mucosal telangiectasias as well as arteriovenous malformations (AVM) in the lung, liver, brain and gastrointestinal tract [1]. Mutations in the ENG and ACVRL1 genes encoding for TGF-β signaling proteins (respectively endogline and ALK1) in endothelial cells respectively characterize the two main HHT phenotypes, namely HHT1 and HHT2. Mutations in BMP9 or SMAD4 genes, which are also involved in TGF-β signaling, have been reported in HHT [1].
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