Potential impact of sirolimus on gastric polyposis burden in juvenile polyposis syndrome

Abstract

A 32-year-old man with SMAD4 (c.1152delTC)—associated juvenile polyposis and hereditary hemorrhagic telangiectasia overlap syndrome experienced symptomatic iron deficiency anemia in 2017 from bleeding gastric polyposis requiring blood transfusions and intravenous iron therapy every 6 months. The patient was referred to our center for further treatment. EGD demonstrated massive gastric polyposis from the pylorus to the incisura, including many ulcerated, friable polyps, which bled on contact (A, left).