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Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia
- Source :
- Orphanet Journal of Rare Diseases
- Publication Year :
- 2015
-
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.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
Activin Receptors, Type II
Receptors, Cell Surface
Disease
030204 cardiovascular system & hematology
Vascular disease
03 medical and health sciences
0302 clinical medicine
Life Expectancy
Antigens, CD
hemic and lymphatic diseases
medicine
otorhinolaryngologic diseases
Genetics
Humans
Genetics(clinical)
Pharmacology (medical)
In patient
Vascular Diseases
Mortality
Pulmonary medicine
Genetics (clinical)
Hereditary haemorrhagic telangiectasia
Aged
Medicine(all)
business.industry
Research
Endoglin
Autosomal dominant trait
General Medicine
medicine.disease
Premature death
Immunology
Mutation
Hereditary Haemorrhagic Telangiectasia
Life expectancy
Female
Telangiectasia, Hereditary Hemorrhagic
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 17501172
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Orphanet journal of rare diseases
- Accession number :
- edsair.doi.dedup.....5232d9c22410af063362bab95cec6aca