Osler - Weber - Rendu Syndrome
Also known as Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of development of the vasculature, caused by a mutation in several genes, including ACVRL1, ENG, SMAD4, and GDF2.
Clinical Features
Epistaxis and telangiectases of the lips, tongue and skin occur in 80-99% of patients.
Arteriovenous malformations (AVMs) in the brain, lungs, liver, GI tract.
Diagnosis
Require the presence of 3 of the following 4:
Recurrent epistaxis
Visceral AVMs (seen on MR or CT arteriography)
Mucocutaneous Telangiectases
Near relative of an affected individual
Mutation analysis can be used for presymptomatic diagnosis.
Treatment
Embolization of all treatable pulmonary AVMs
Anti-estrogenic agents (eg. tamoxifen)
Anti-vascular endothelial growth factor agents (eg. bevacizumab)
