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QJM Advance Access published online on April 4, 2006
QJM, 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
Received November 24, 2005
Accepted February 3, 2006

Original Papers

Life expectancy in patients with hereditary haemorrhagic telangiectasia

C. Sabbà 1 *, G. Pasculli 1, P. Suppressa 1, F. D’ovidio 2, G. Mariano Lenato 3, F. Resta 4, G. Assennato 1, and G. Guanti 3

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

* To whom correspondence should be addressed.
C. Sabbà, E-mail: c.sabba{at}dimimp.uniba.it


  Abstract

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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