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Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia

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Title: Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia
Authors: Fatania, G
Gilson, C
Glover, A
Alsafi, A
Jackson, JE
Patel, MC
Shovlin, CL
Item Type: Journal Article
Abstract: Hereditary haemorrhagic telangiectasia (HHT) results in arteriovenous malformations (AVMs), most commonly in the lungs, liver and brain. Discussion of cerebral vascular malformations is an important element of patient management. The current study objectives were to examine uptake and results of screening cerebral magnetic resonance (MR) scans, excluding symptomatic patients requiring neurological investigations. The remaining non-symptomatic individuals received formal pretest counselling that differed according to family history. For the 603 patients with no neurological symptoms of concern, screening scan uptake was higher after publication of the ARUBA trial. Patients with a family history of cerebral haemorrhage were 4 to 14-fold more likely to have a screening scan than patients with no such family history. For patients without neurological symptoms suggesting cerebral AVMs, none of the 59 screening scans performed at our institution demonstrated a cerebral AVM. Four scans (6.8%) demonstrated small aneurysms. The most common abnormality was cerebral infarction (20/59, 33.9%), predominantly identified in patients with pulmonary AVMs. Of 29 pulmonary AVM patients with no previous history of clinical stroke, 16 (55.2%) had between one and five silent infarcts. For HHT patients with pulmonary AVMs, the most frequently affected sites were the cerebellum (40%) and thalamus (14.3%), and the age-adjusted odds ratio for an infarct was 21.6 (95% confidence intervals 3.7, 126), p = 0.001. We concluded that for cerebral screening programmes in HHT, the findings support informed patient choice incorporating understanding that cerebral AVMs are rare in non-symptomatic HHT patients, but that screening scans commonly detect silent cerebral infarction due to pulmonary AVMs.
Issue Date: 1-Nov-2018
Date of Acceptance: 1-Feb-2018
URI: http://hdl.handle.net/10044/1/70516
DOI: https://dx.doi.org/10.5582/irdr.2018.01103
ISSN: 2186-361X
Publisher: International Advancement Center for Medicine & Health Research Co., Ltd. (IACMHR Co., Ltd.)
Start Page: 236
End Page: 244
Journal / Book Title: Intractable & rare diseases research
Volume: 7
Issue: 4
Copyright Statement: © 2018 International Research and Cooperation Association for Bio & Socio-Sciences Advancement.
Keywords: Science & Technology
Life Sciences & Biomedicine
Medicine, General & Internal
General & Internal Medicine
Cerebral infarction
cardioembolic stroke
counselling
magnetic resonance imaging
paradoxical emboli
arteriovenous fistulas
stroke
pulmonary arteriovenous malformations
PULMONARY ARTERIOVENOUS-MALFORMATIONS
VASCULAR MALFORMATIONS
PREVALENCE
RISK
MANIFESTATIONS
POPULATION
DISEASE
AGE
Cerebral infarction
arteriovenous fistulas
cardioembolic stroke
counselling
magnetic resonance imaging
paradoxical emboli
pulmonary arteriovenous malformations
stroke
Science & Technology
Life Sciences & Biomedicine
Medicine, General & Internal
General & Internal Medicine
Cerebral infarction
cardioembolic stroke
counselling
magnetic resonance imaging
paradoxical emboli
arteriovenous fistulas
stroke
pulmonary arteriovenous malformations
PULMONARY ARTERIOVENOUS-MALFORMATIONS
VASCULAR MALFORMATIONS
PREVALENCE
RISK
MANIFESTATIONS
POPULATION
DISEASE
AGE
Publication Status: Published
Open Access location: http://www.irdrjournal.com/action/downloaddoc.php?docid=1615
Appears in Collections:National Heart and Lung Institute