Author(s)

Cory Patrick¹, Kaitlin McIntyre¹, Jeremy Ramidial², Sano Joa³, Vijaykumar Dinsukhlal Zaveri³, Damien Hansra^3,4

¹Miller School of Medicine, University of Miami, Miami, FL, USA.
²Jackson Memorial Hospital, Miami, FL, USA.
³Mercy Hospital, Miami, FL, USA.
⁴Oncology and Radiation Associates, Miami, FL, USA.

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder with variable expressivity. We present a 62-year-old patient with a rare, late-onset disease course featuring a novel mutation in ACVRL1, a signal transducer in the TGFβ/BMP pathway.

Hereditary Hemorrhagic Telaniectasia, Osler-Weber-Rendu Syndrome, Anemia, Mutation

Patrick, C. , McIntyre, K. , Ramidial, J. , Joa, S. , Dinsukhlal Zaveri, V. and Hansra, D. (2016) Novel ACLV1 Mutation Identified in Late Onset Hereditary Hemorrhagic Telangiectasia. International Journal of Otolaryngology and Head & Neck Surgery, 5, 157-173. doi: 10.4236/ijohns.2016.54027.