Life expectancy of parents with Hereditary Haemorrhagic Telangiectasia. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: de Gussem, E.; Edwards, C.; Hosman, A.; Westermann, C.; Snijder, R.; Faughnan, M.; Mager, J.
• Is Part Of: Orphanet journal of rare diseases. Volume 11:Issue 1(2016)
• Page Start: 1
• Page End: 8
• Publication Date: 2016-12
• Subjects: Hereditary Haemorrhagic Telangiectasia -- Genetics -- Mortality -- Pulmonary medicine -- Vascular disease; Rare diseases -- Periodicals; Genetic disorders -- Periodicals; Orphan drugs -- Periodicals; 616
• DOI: 10.1186/s13023-016-0427-x
• Languages: English
• ISSNs: 1750-1172

Abstract

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 withACVRL 1 mutations had normal life expectancies, whereas parents withEndoglin mutations died 7.1 years earlier than controls (p = 0.024). Women withEndoglin 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 withEndoglin 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.