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Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia
Author(s) -
Gonzalez Cristian D.,
Mcdonald Jamie,
Stevenson David A.,
Whitehead Kevin J.,
Petersen Matthew G.,
Presson Angela P.,
Ding Qian,
Wilson Kevin F.
Publication year - 2018
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.27015
Subject(s) - medicine , interquartile range , pediatrics , telangiectasia , cohort , retrospective cohort study , incidence (geometry) , genetic testing , population , cohort study , surgery , physics , environmental health , optics
Objectives/Hypothesis Our objective was to describe epistaxis onset and severity in pediatric hereditary hemorrhagic telangiectasia (HHT) patients and study the cumulative incidence of epistaxis by age of onset within each genetic subtype. Study Design Retrospective cohort chart review. Methods Charts were reviewed of patients age 0 to 18 years with a clinical or genetic diagnosis of HHT who were evaluated at a tertiary multidisciplinary HHT clinic from January 2010 to June 2016. The epistaxis severity score (ESS), a validated tool for assessing epistaxis severity, was used to assess epistaxis. Statistical analyses were conducted on the full HHT cohort as well as subgroups stratified by the HHT causative gene (HHT1 = ENG and HHT2 = ACVRL1 ). Results Sixty‐nine pediatric subjects were identified; 60 had HHT confirmed by genetic testing, and nine (from families with known mutations) met published clinical diagnostic criteria alone. Fifty‐nine (85%) had onset of epistaxis. The median age of onset of epistaxis was 5 years (interquartile range [IQR]: 2–9 years). The median ESS for the entire cohort was 1.6 (IQR: 0–2.6). The median ESS was higher in HHT1 versus HHT2 (2.3 vs. 1.1, P = .002), and age of epistaxis onset was earlier in HHT1 (3 vs. 5 years, P = .03). Sex and age were not associated with ESS. Conclusions Epistaxis may present early in HHT, but is typically mild in the pediatric period. Severity in the pediatric population is worse in patients with HHT1. By recognizing the significance of even mild, infrequent epistaxis in a child with a family history of HHT, and understanding that not all HHT patients have epistaxis during childhood, community providers and otolaryngologist can assist in the early detection of HHT. Level of Evidence 4 Laryngoscope , 128:1714–1719, 2018