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. 2016 Apr 22:11:46.
doi: 10.1186/s13023-016-0427-x.

Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

E M de Gussem  1 , C P Edwards  2 , A E Hosman  3   4 , C J J Westermann  5 , R J Snijder  5 , M E Faughnan  2   6 , J J Mager  5
Affiliations

Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia

E M de Gussem et al. Orphanet J Rare Dis. .

Abstract

Background: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death.

Method: We investigated life-expectancies of parents of HHT patients compared with their non-HHT partners using self- or telephone-administered questionnaires sent to their children. Patients were extracted from the databases of 2 participating HHT Centres: the Toronto HHT Database (Toronto, Canada) and the St. Antonius Hospital HHT Database (Nieuwegein, The Netherlands).

Results: Two hundred twenty five/407 (55%) of respondents were included creating HHT- (n = 225) and control groups (n = 225) of equal size. Two hundred thirteen/225 (95%) of the HHT group had not been screened for organ involvement of the disease prior to death. The life expectancy in parents with HHT was slightly lower compared to parents without (median age at death 73.3 years in patients versus 76.6 years in controls, p0.018). Parents with ACVRL 1 mutations had normal life expectancies, whereas parents with Endoglin mutations died 7.1 years earlier than controls (p = 0.024). Women with Endoglin mutations lived a median of 9.3 years shorter than those without (p = 0.04). Seven/123 (5%) of deaths were HHT related with a median age at death of 61.5 years (IQ range 54.4-67.7 years).

Conclusion: Our study showed that the life expectancy of largely unscreened HHT patients was lower than people without HHT. Female patients with Endoglin mutations were most strikingly at risk of premature death from complications. These results emphasize the importance of referring patients with HHT for screening of organ involvement and timely intervention to prevent complications.

Keywords: Genetics; Hereditary Haemorrhagic Telangiectasia; Mortality; Pulmonary medicine; Vascular disease.

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Figures

Fig. 1
Fig. 1
Kaplan-Meijer curve of HHT group versus control group. Log Rank: p = 0.018
Fig. 2
Fig. 2
Kaplan-Meijer curve of unscreened Endoglin patients vs controls. Log Rank: p = 0.024
Fig. 3
Fig. 3
Kaplan-Meijer curve of unscreened female Endoglin patients vs female controls. Log Rank: p = 0.038
Fig. 4
Fig. 4
Kaplan-Meijer curve of unscreened ACVLR1 patients vs controls. Log Rank: p = 0.476
See this image and copyright information in PMC

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