Abstract: Background: There are very few studies about general quality of life parameters, standards for the description of
health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia
(HHT), a rare disease in which epistaxis is a cardinal symptom.
Purpose: To assess the quality of life in a population of Spanish patients with HHT and compare it with the general
population.
Design and methods: Between January 1st 2005 and December 31st 2013, 187 adult patients diagnosed with HHT
who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L
(five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). The numerical
social index value was also determined and the subjective effect of the nasal epistaxis on their quality of life was
estimated classified as mild, moderate or severe.
Results: Patients with HHT had greater problems than the general population in the five dimensions of the
EuroQol 5D-3L, particularly considering pain/discomfort and anxiety/depression. In the VAS and the social index
value, patients with HHT also scored lower than the general population, particularly older patients, males, and
patients with HHT2. They also had values similar to those of populations with chronic illnesses. The subjective
perception of the severity of epistaxis correlated strongly with the VAS and social index values.
Conclusions: The quality of life of patients with HHT, estimated using the EuroQol 5D-3L scale, is affected across all
dimensions. The scores are similar to those seen in cases of other chronic diseases. Older patients, males and the
carriers of the ACVRL1 mutation generally have worse scores on these scales. The VAS and the social index value are
index that correlate well with the severity of the clinical symptoms associated mainly with epistaxis.
