Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia.
BACKGROUND
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death.


METHODS
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).


CONCLUSIONS
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.
Department of Internal Medicine, University of Manitoba, Winnipeg, Canada.
E M
EM
de Gussem
Department of Medicine, Division of Respirology, St Michael's Hospital, University of Toronto, Toronto, Canada.
C P
CP
Edwards
Department of Medicine, Division of Respirology, St Michael's Hospital, University of Toronto, Toronto, Canada. a.hosman@antoniusziekenhuis.nl.|Department of Pulmonology, St Antonius Hospital, Nieuwegein, The Netherlands. a.hosman@antoniusziekenhuis.nl.
A E
AE
Hosman
Department of Pulmonology, St Antonius Hospital, Nieuwegein, The Netherlands.
C J J
CJ
Westermann
Department of Pulmonology, St Antonius Hospital, Nieuwegein, The Netherlands.
R J
RJ
Snijder
Department of Medicine, Division of Respirology, St Michael's Hospital, University of Toronto, Toronto, Canada.|Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Canada.
M E
ME
Faughnan
Department of Pulmonology, St Antonius Hospital, Nieuwegein, The Netherlands.
J J
JJ
Mager
D030301:Activin Receptors, Type II / Q000235:genetics; D000368:Aged; D015703:Antigens, CD / Q000235:genetics; D000071063:Endoglin; D005260:Female; D006801:Humans; D008017:Life Expectancy; D008297:Male; D009154:Mutation / Q000235:genetics; D011956:Receptors, Cell Surface / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics / Q000401:mortality* / Q000503:physiopathology; D014652:Vascular Diseases / Q000235:genetics / Q000401:mortality / Q000503:physiopathology
D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II
Genetics; Hereditary Haemorrhagic Telangiectasia; Mortality; Pulmonary medicine; Vascular disease