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QJM Advance Access originally published online on April 4, 2006
QJM 2006 99(5):327-334; doi:10.1093/qjmed/hcl037
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© The Author 2006. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Life expectancy in patients with hereditary haemorrhagic telangiectasia

C. Sabbà1,, G. Pasculli1, P. Suppressa1, F. D'Ovidio2, G. Mariano Lenato4, F. Resta3, G. Assennato1 and G. Guanti4

1From the Department of Internal Medicine and Public Health, 2Department of Statistical Sciences, 3Geriatrics-MIDIM, and 4Unit of Medical Genetics, University of Bari, Bari, Italy

Address correspondence to Professor C. Sabbà, Department of Internal Medicine and Public Health, University of Bari, Bari, Italy. email: c.sabba{at}dimimp.uniba.it

Received 24 November 2005 and in revised form 3 February 2006

Background: There are few data on life expectancy in patients with hereditary haemorrhagic telangiectasia (HHT), a disorder with life-threatening complications.

Methods: Seventy HHT patients provided data on age and age at death of their HHT-affected parent, which was compared with that of the parent's non-affected partner.

Results: At the time of the study, 40 HHT parents (57.1%) vs. 36 (51.4%) non-HHT parents had died (p = 0.404). Median age at death was lower in HHT vs. non-HHT parents (63.2 vs. 70.0 years, respectively). The mortality of HHT parents showed an early peak in the under 50s and a late peak at 60–79 years. HHT was the main risk factor influencing life expectancy after 30 years (p < 0.05). No differences in survival probability were found in HHT patients with respect to sex (p = 0.37), or ENG vs. ALK-1 genotype (p < 0.9).

Discussion: Life expectancy appears to be significantly lower in HHT patients than in their partners. Prevention of HHT complications with screening programs could increase life expectancy.


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