The role of nuclear medicine in a case of Rendu-Osler-Weber disease with pulmonary involvement

World J Nucl Med. 2021 Sep 22;20(4):389-391. doi: 10.4103/wjnm.wjnm_48_21. eCollection 2021 Oct-Dec.

Abstract

Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia (HHT) is a rare systemic disease. Its primary pathogenic expression is multiple arteriovenous malformations (AVM) and severe hypoxia. A case of suspected pulmonary embolism in a 49-year-old male with intestinal, cardiac, and pulmonary HHT affection is reported. Pulmonary AVM could create an apparent mismatch perfusion defect evident upon ventilation and perfusion scan (V/Q scan), leading to misinterpretation. It reinforces the importance between clinics, anatomy, and functional evaluation. Care must be taken when interpreting V/Q scan and the reporting physician must be alert to the possible sources of errors.

Keywords: Arteriovenous malformations; Rendu–Osler–Weber disease; hereditary hemorrhagic telangiectasia; technetium Tc 99 m aggregated albumin; ventilation-perfusion scan.

Publication types

  • Case Reports