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Epistaxis Severity in Pediatric HHT Patients Is Typically Mild

by Amy E. Hamaker • July 8, 2018

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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.

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Explore This Issue
July 2018

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.

Setting: University of Utah HHT Center, Salt Lake City.

Synopsis: Sixty patients had HHT confirmed by genetic testing, and nine (from families with known mutations) met published clinical diagnostic criteria alone. All patients had a family history of HHT. Over 90% of patients had either HHT2 or HHT1. The mean patient age at evaluation was 9 years, and the median epistaxis onset age was 5 years. Patients with HHT1 had a younger median epistaxis onset age at 3 years (versus 5 years in HHT2). Ten subjects had not yet developed epistaxis. The majority of patients with epistaxis experienced mild bleeding; none experienced severe nosebleeds. Anemia was noted in only two patients, and no blood transfusion treatment were required. Four patients sought medical attention for their nosebleeds. There was no difference in the number of clinical diagnostic criteria in patients with HHT1 versus HHT2, but the slightly higher HHT1 score was statistically significant after adjusting for age and sex. Median epistaxis severity scores were higher in HHT1, while epistaxis frequency and duration tended to be lower in HHT2. Limitations included a lack of routine rhinoscopy during evaluation and ascertainment bias due to HHT specialty clinic evaluation.

Citation: Gonzalez CD, McDonald J, Stevenson DA, et al. Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia. Laryngoscope. November 24, 2017. Doi: 10.1002/lary.27015.

Filed Under: Literature Reviews, Pediatric Tagged With: epistaxis, HHT, pediatric patients, pediatricsIssue: July 2018

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