Hereditary hemorrhagic telangiectasia associated with multiple pulmonary arteriovenous malformations and juvenile polyposis.

Abstract

A case with multiple telangiectases of the gastrointestinal tract that caused recurrent bleeding is reported. The hemorrhagic telangiectases were associated with multiple pulmonary arteriovenous malformations leading to significant right-to-left shunting and in combination with an atrial septal defect to progressive right heart failure and finally to the death of the patient. Juvenile polyps and tubulovillous adenomas of the colon were removed. Hemicolectomy had to be performed because of carcinomatous infiltration originating from adenomatous epithelium developing in a juvenile polyp. The pathogenesis of hemorrhagic telangiectases is unknown. It is an important source of intestinal hemorrhage and may be complicated by the additional finding of arteriovenous fistulas and the occurrence of recurrent juvenile, adenomatous epithelium containing colonic polyps eventually leading to carcinoma. The present case suggests an inherited association of hemorrhagic telangiectases and juvenile polyposis. It also highlights that rapidly progressive right-to-left shunting rather than hemorrhagic anemia my be the major determinant of the course of the disease.