Influence of hormonal status in hereditary hemorrhagic telangiectasia – analysis of an online patient questionnaire

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular disorder with mucocutaneous telangiectasia. Hormones are hypothesized to play a role in reducing bleeding in these patients; however, clear evidence is currently lacking. The aim of this study was to further investigate this hypothesis by assessing the impact of altered hormonal status on HHT severity. This cross-sectional electronic questionnaire, available in English and German, was distributed with the support of various self-help groups. It included sections on the general medical history of HHT and the influence of hormones on disease symptoms. Data were collected between March 2016 and August 2017. Of the 477 respondents with HHT, 326 were female (68%). With increasing age, female patients experienced more severe epistaxis compared to male patients, with a mean age of 54 years (standard deviation ± 11.5 years, range [28,83]). Of the 228 female patients who reported having taken hormones, 73% used them for contraception and 57% for hyper- or dysmenorrhea. Regarding hormone intake, 52% of the patients taking combined estrogen and progestin therapy experienced less epistaxis. Most female patients stated an increase in epistaxis during puberty (41%) and pregnancy (39%), predominantly in the second trimester. In HHT, variation in levels of hormone concentrations seem to contribute to symptom severity. Off-label use of hormonal products in women with HHT may be considered. Clinicaltrials.gov: NCT02690246, Registration Date: 2016–02-09.