Screening for arteriovenous malformations in hereditary haemorrhagic telangiectasia

Abstract

Objective: To determine whether patients with hereditary haemorrhagic telangiectasia were being screened according to international guidelines, and to review recent evidence in order to provide up-to-date guidelines for the initial systemic management of hereditary haemorrhagic telangiectasia.

Methods: A retrospective case note analysis was conducted, assessing patients in terms of screening for: genetics, cerebral arteriovenous malformations, pulmonary and hepatic arteriovenous malformations, and gastrointestinal telangiectasia. Databases searched included Medline, the Cumulative Index to Nursing and Allied Health Literature, and Embase.

Results: Screening investigations were most frequently performed for hepatic arteriovenous malformations and least frequently for genetics. Recent data suggest avoiding routine genetic and cerebral arteriovenous malformation screening because of treatment morbidities; performing high-resolution chest computed tomography for pulmonary arteriovenous malformation screening; using capsule endoscopy (if possible) to reduce complications from upper gastrointestinal endoscopy; and omitting routine liver enzyme testing in favour of Doppler ultrasound.

Conclusion: Opportunities for systemic arteriovenous malformation screening are frequently overlooked. This review highlights the need for screening and considers the form in which it should be undertaken.

Keywords: Arteriovenous Malformation; Guidelines; Hereditary Hemorrhagic Telangiectasia; Screening; Treatment.