Background Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by recurrent epistaxis (nose bleeds), mucosal telangiectasias (spider veins), and arteriovenous malformations. Although HHT affects all racial groups, few studies have explored racial disparities among patients with HHT.
Methods We performed a retrospective chart review of HHT patients who were seen at a single academic center between July 1, 2014 and January 1, 2022. The primary outcomes of this study were the Epistaxis Severity Score (ESS) and the presence of pulmonary, cerebral, gastrointestinal, spinal, and hepatic arteriovenous malformations (AVMs). We analyzed racial differences using t-tests and analysis of variance (ANOVA) for continuous variables, and chi-squared tests for categorical variables. We then performed multivariable linear and logistic regressions on outcomes.
Results Our review identified 35 Asian, 6 Black or African American, 72 Hispanic or Latino, and 244 White or Caucasian patients who met the inclusion criteria. Through an analysis of variance model, race/ethnicity was not significantly associated with ESS. Two univariable logistic regression models between race and both pulmonary and brain AVMs showed that race was associated with the incidence of pulmonary AVMs (p<0.01), with Asian patients at a 2.3-fold increased risk of pulmonary AVMs compared with White patients (p=0.03). Race was also associated with the incidence of cerebral AVMs (p<0.01) with Hispanic or Latino patients at a 4.8-fold increased risk compared with White patients (p<0.01).
Conclusion Patients who identified as Asian may have higher rates of pulmonary AVMs while patients identifying as Hispanic or Latino may have more cerebral AVMs. The correlations may be important for identifying risk factors in certain patient populations.
- Arteriovenous Malformation
- Vascular Malformation
Data availability statement
Data are available upon reasonable request. Deidentified participant data from study subjects may be made available upon reasonable request. Please contact firstname.lastname@example.org for further information.
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Contributors SWH and MBC conceived the study, monitored data collection, and revised the paper. HY, SH, and MC designed the study. HY and AR collected data, managed, and analyzed data, and drafted the initial manuscript. HY, AR, SWH, MBC, and HK contributed substantially to its revision for intellectual content, granted final approval for publication, and are accountable for all aspects of work. HY is the guarantor and accepts full responsibility for the finished work and/or the conduct of the study, had access to the data, controlled the decision to publish, and is the listed corresponding author. All authors read and approved the final manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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