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Screening for arteriovenous malformations in hereditary haemorrhagic telangiectasia

Published online by Cambridge University Press:  05 July 2016

S Jervis  and
D Skinner
S Jervis*
Affiliation:
ENT Department, Princess Royal Hospital, Shrewsbury and Telford Hospital NHS Trust, Telford, UK
D Skinner
Affiliation:
ENT Department, Princess Royal Hospital, Shrewsbury and Telford Hospital NHS Trust, Telford, UK
*
Address for correspondence: Mrs Suzanne Jervis, ENT Department, Princess Royal Hospital, Apley Castle, Grainger Drive, Telford TF1 6TF, UK Fax: 01952 565 718 E-mail: [email protected]
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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

Hereditary Hemorrhagic TelangiectasiaArteriovenous MalformationScreeningGuidelinesTreatment
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 130 , Issue 8 , August 2016 , pp. 734 - 742
Copyright
Copyright © JLO (1984) Limited 2016 

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Footnotes

Presented orally at the annual summer meeting of the Midland Institute of Otology, 6 May 2014, Cheltenham, and as a poster at the 15th British Academic Conference in Otolaryngology, 8–10 July 2015, Liverpool, UK.

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