Osler-Weber-Rendu Syndrome: A Case Report and Brief Literature Review.

Abstract

A previously healthy 17-year-old female presented for preoperative clearance for an orthopedic repair and was found to have moderate-to-severe asymptomatic hypoxia. Subsequent chest X-ray and CT revealed a large pulmonary arteriovenous fistula (AVF) in the left lower lobe. Further questioning about family history revealed a history of Osler-Weber-Rendu syndrome, also called hereditary hemorrhagic telangiectasia (HHT), on the maternal side. HHT is classically associated with epistaxis, gastrointestinal bleeding, iron-deficient anemia, and mucocutaneous telangiectasias. An estimated 50% of patients with HHT will also have pulmonary arteriovenous malformations (AVM), which increase the risk of stroke and cerebral abscesses, and hepatic AVMs. Specific therapy is site-dependent but may include laser therapy and therapeutic embolization along with iron supplementation and transfusions for anemia.