Experience of the Irish National Centre for hereditary haemorrhagic telangiectasia 2003-2008.

Hdl Handle:
http://hdl.handle.net/10147/206356
Title:
Experience of the Irish National Centre for hereditary haemorrhagic telangiectasia 2003-2008.
Authors:
Ni Bhuachalla, C F; O' Connor, T M; Murphy, M; Colwell, N; Brady, A
Affiliation:
Dept. of Radiology, National HHT Centre, Mercy University Hospital, Cork,, Ireland.
Citation:
Respir Med. 2010 Aug;104(8):1218-24. Epub 2010 Apr 1.
Journal:
Respiratory medicine
Issue Date:
31-Jan-2012
URI:
http://hdl.handle.net/10147/206356
DOI:
10.1016/j.rmed.2010.03.003
PubMed ID:
20362423
Abstract:
Hereditary haemorrhagic telangiectasia (HHT) is a group of autosomal dominant disorders of vascular structure. The Irish National Centre for HHT at the Mercy University Hospital, Cork, Ireland was founded in 2003. From 2003 to 2008, screening of 164 patients with contrast echocardiography, thoracic computerised tomography (CT) and cerebral magnetic resonance imaging (MRI) has identified 88 patients with definite HHT, 72 (82%) of whom had epistaxis, 70 (80%) had telangiectasia and 81 (92%) had a first-degree relative with HHT. We sought to describe the manifestations of HHT in an Irish population and to determine differences between internationally reported data. The HHT patient database was analysed to describe demographics, clinical manifestations and interventional procedures performed in all referred patients. Contrast echocardiography and/or CT were performed in 86 patients with definite HHT, identifying 27 patients (31%) with pulmonary arteriovenous malformations (pAVMs). Nineteen patients with single or multiple pAVMs had 28 embolisation procedures performed, with 1-6 pAVMs embolised per procedure. Cerebral MRI was performed in 78 (89%) patients and 2 (2.3%) had cerebral arteriovenous malformations (cAVMs). HHT prevalence is thought to be 1 in 2500-8000, suggesting that there are many undiagnosed cases in Irish patients. Internationally published data suggest a prevalence of 15-35% for pAVMs and 10-23% for cAVMs in patients with HHT. While the prevalence of pAVMs in our group is consistent with these data, the prevalence of cAVMs is considerably lower, suggesting that Irish patients with HHT may differ genotypically and phenotypically from those in other countries.
Language:
eng
MeSH:
Adolescent; Adult; Aged; Arteriovenous Malformations/*diagnosis/epidemiology/genetics; Child; Echocardiography; Female; Genotype; Humans; Ireland/epidemiology; Male; Middle Aged; Phenotype; Prevalence; Pulmonary Veins/*abnormalities; Telangiectasia, Hereditary Hemorrhagic/*diagnosis/epidemiology; Tomography, X-Ray Computed; Young Adult
ISSN:
1532-3064 (Electronic); 0954-6111 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorNi Bhuachalla, C Fen_GB
dc.contributor.authorO' Connor, T Men_GB
dc.contributor.authorMurphy, Men_GB
dc.contributor.authorColwell, Nen_GB
dc.contributor.authorBrady, Aen_GB
dc.date.accessioned2012-01-31T16:38:12Z-
dc.date.available2012-01-31T16:38:12Z-
dc.date.issued2012-01-31T16:38:12Z-
dc.identifier.citationRespir Med. 2010 Aug;104(8):1218-24. Epub 2010 Apr 1.en_GB
dc.identifier.issn1532-3064 (Electronic)en_GB
dc.identifier.issn0954-6111 (Linking)en_GB
dc.identifier.pmid20362423en_GB
dc.identifier.doi10.1016/j.rmed.2010.03.003en_GB
dc.identifier.urihttp://hdl.handle.net/10147/206356-
dc.description.abstractHereditary haemorrhagic telangiectasia (HHT) is a group of autosomal dominant disorders of vascular structure. The Irish National Centre for HHT at the Mercy University Hospital, Cork, Ireland was founded in 2003. From 2003 to 2008, screening of 164 patients with contrast echocardiography, thoracic computerised tomography (CT) and cerebral magnetic resonance imaging (MRI) has identified 88 patients with definite HHT, 72 (82%) of whom had epistaxis, 70 (80%) had telangiectasia and 81 (92%) had a first-degree relative with HHT. We sought to describe the manifestations of HHT in an Irish population and to determine differences between internationally reported data. The HHT patient database was analysed to describe demographics, clinical manifestations and interventional procedures performed in all referred patients. Contrast echocardiography and/or CT were performed in 86 patients with definite HHT, identifying 27 patients (31%) with pulmonary arteriovenous malformations (pAVMs). Nineteen patients with single or multiple pAVMs had 28 embolisation procedures performed, with 1-6 pAVMs embolised per procedure. Cerebral MRI was performed in 78 (89%) patients and 2 (2.3%) had cerebral arteriovenous malformations (cAVMs). HHT prevalence is thought to be 1 in 2500-8000, suggesting that there are many undiagnosed cases in Irish patients. Internationally published data suggest a prevalence of 15-35% for pAVMs and 10-23% for cAVMs in patients with HHT. While the prevalence of pAVMs in our group is consistent with these data, the prevalence of cAVMs is considerably lower, suggesting that Irish patients with HHT may differ genotypically and phenotypically from those in other countries.en_GB
dc.language.isoengen_GB
dc.subject.meshAdolescenten_GB
dc.subject.meshAdulten_GB
dc.subject.meshAgeden_GB
dc.subject.meshArteriovenous Malformations/*diagnosis/epidemiology/geneticsen_GB
dc.subject.meshChilden_GB
dc.subject.meshEchocardiographyen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshGenotypeen_GB
dc.subject.meshHumansen_GB
dc.subject.meshIreland/epidemiologyen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMiddle Ageden_GB
dc.subject.meshPhenotypeen_GB
dc.subject.meshPrevalenceen_GB
dc.subject.meshPulmonary Veins/*abnormalitiesen_GB
dc.subject.meshTelangiectasia, Hereditary Hemorrhagic/*diagnosis/epidemiologyen_GB
dc.subject.meshTomography, X-Ray Computeden_GB
dc.subject.meshYoung Adulten_GB
dc.titleExperience of the Irish National Centre for hereditary haemorrhagic telangiectasia 2003-2008.en_GB
dc.contributor.departmentDept. of Radiology, National HHT Centre, Mercy University Hospital, Cork,, Ireland.en_GB
dc.identifier.journalRespiratory medicineen_GB
dc.description.provinceMunster-
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