E2296. Racial and Ethnic Disparities in Hereditary Hemorrhagic Telangiectasia: Experience From a Single Center of HHT Excellence
  1. Muhammad Latif; Johns Hopkins University; Johns Hopkins University Bloomberg School of Public Health
  2. Yingli Fu; Johns Hopkins University
  3. Clifford Weiss; Johns Hopkins University
Hereditary hemorrhagic telangiectasia is a systemic rare autosomal disease with a variable clinical presentation. The purpose of this study is to explore the racial and ethnic differences in various demographic, clinical, and organ involvement.

Materials and Methods:
A single-center retrospective chart review study included the patients with a suspected diagnosis of HHT that presented to our institutional center of HHT excellence between January 2003 and January 2020. Only those patients were included that have a definite diagnosis of HHT defined as either positive HHT genetic mutation or meeting the 3 or 4 of Curacao criteria. The demographic, clinical, and radiological information was collected from all the patients. Participants were N = 419 individuals meeting criteria for definite HHT including n = 327 Caucasian, n = 19 African American, n = 2 Asian, and n = 1 American Indian/Alaska native. There were n = 13 Hispanic or Latino and n = 313 Non-Hispanic or Latino. For the purpose of statistical analysis, patient populations were divided into white versus nonwhite and Hispanic versus non-Hispanic. Those patients that do not provide racial and ethnic information were excluded from the analysis. The two groups were compared with the t-test and Fischer exact test. A p-value of <0.05 was considered statistically significant.

Four hundred and nineteen patients meet the criteria and were included in the analysis. The mean age was 42±20 SD, range <1 to 90 years with 61% of females. There were more pediatric HHT patients in the white population group compared to the non-white (p = 0.02), while the gastrointestinal AMV was more common in the non-white group. However, there is no statistically significant difference in age (P = 0.06), gender (P = 0.07), BMI (P = 0.80), family history of HHT (P = 0.86), history of epistaxis (P = 0.07), telangiectasia (P = 0.73), visceral AVM (P = 0.65), HHT genetic mutation (P = 0.23), HHT disease severity (P = 0.72), and presence of diffuse pulmonary AVM (P = 0.44) between the white and non- white group. On the analysis results of ethnicity, only patient age was statistically significant for Hispanic having an early age of HHT disease presentation (P = 0.04) compared with Hon-Hispanic

Out study results demonstrate no significant difference in the demographic and clinical presentation of hereditary hemorrhagic telangiectasia in the different racial and ethnic groups. Our study results are limited to one center experience and further studies are required to demonstrate this effect at a large patient population.