Identifying racial disparities in hereditary hemorrhagic telangiectasia

Abstract

BackgroundHereditary 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.MethodsWe 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.ResultsOur 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).ConclusionPatients 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.

Sociodemographic characteristics of pediatric patients with vascular malformations: Results of a single site study

“…The existence and cause of disparities are not always intuitive, necessitating exploration of their existence and the ways they intersect with diseases. For example, in patients with hereditary hemorrhagic telangiectasia, white patients were found to have less pulmonary and cerebral AVMs compared to Asian and Hispanic patients respectively ( 10 ). In patients with diseases like vascular malformations where disparities are not extensively studied, research is needed to identify disparities where they exist so that these may be mitigated where possible.…”