Epistaxis Severity in Pediatric HHT Patients Is Typically Mild

How do epistaxis onset and severity present in pediatric hereditary hemorrhagic telangiectasia (HHT) patients in terms of age of onset within genetic subtypes?

Bottom line
Epistaxis may present early in HHT, but is typically mild in the pediatric period and is slightly worse in patients with HHT1.

Background: HHT is an autosomal dominant disorder of vascular formation that has multiple genetic subtypes, with HHT type 1 and HHT type 2 making up the majority of cases. HHT-associated vascular lesions include telangiectases and arteriovenous malformations (AVMs), and epistaxis is the most common HHT symptom. Reports of epistaxis onset in childhood have largely relied on adult patient recall, and there are no reports to date of epistaxis severity in the pediatric HHT population. Early HHT detection allows for solid organ screening for AVMs and treatment to avoid potentially catastrophic complications.

Study design: Retrospective cohort chart review of 69 patients aged 0 to 18 years with a clinical or genetic HHT diagnosis who were evaluated at a tertiary multidisciplinary HHT clinic from January 2010 to June 2016.