Hereditary hemorrhagic telangiectasia – A perennial disease?

Introduction Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that leads to vascular malformations and thus presents epistaxis as the main symptom. The bleedings occur after vascular ruptures in the nasal mucosa and can take on a wide variety of forms. The severity is recorded using the so-called epistaxis/nosebleed severity score (ESS/NSS). The intensity of epistaxis can differ significantly from that of "normal" epistaxis. An investigation was therefore carried out regarding seasonal parallels.

Material and methods In a retrospective analysis between January 2006 and October 2023, all epistaxis-related presentations, both elective and emergency, from HHT patients were identified. A correlation analysis was performed between the month of presentation and the ESS/NSS. A p-value>0.05 was considered statistically significant.

Result 60 patients were included (m=26; f=34). A total of 990 visits were recorded, 142 of which were emergencies (14.3%). Most elective visits occurred in February (94/990; 9.5%), August (90/990; 9.1%) and July (89/990; 9%), and most emergency visits occurred in April (17/142; 12%), August (16/142; 11.3%) and July (14/142; 9.9%). The highest ESS/NSS values were collected in June (5.27), March (5.21), and November (5.08). There was no statistically significant connection between the visits and the respective month.

Conclusion HHT-specific epistaxis is based on a completely different pathogenesis than "normal" nosebleeds. The seasonal increase in symptoms in the colder months with "normal" epistaxis does not seem to apply to HHT.

Publication History

Article published online:
19 April 2024