Health Disparities in Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia

To examine the association of social determinants of health and age at heterozygous familial hypercholesterolemia (HeFH) diagnosis and treatment.

We performed a retrospective, single-center study of children with HeFH. Multivariable linear regression models were used to examine the association between Child Opportunity Index (COI) and age at HeFH diagnosis and statin initiation. Additional covariates included sex, race, ethnicity, health insurance type, primary language, body mass index percentile, and low-density lipoprotein cholesterol (LDL-C). To explore potential referral bias, we compared the COI of the study cohort with that of the institution's catchment area.

We evaluated 577 patients. The median age at presentation was 12 (9, 14) years and the median LDL-C was 199 (169, 235) mg/dL; 58% were prescribed a statin at a median age of 13 (10, 15) years. There was no association between COI and the age at HeFH diagnosis or statin initiation. On multivariable analysis, Black race was associated with older age at HeFH diagnosis but not statin initiation compared with White race (adjusted estimate 1.1 ± 0.50 yrs, P = .023). Higher LDL-C, male sex, and lower body mass index percentile were associated with younger age at HeFH diagnosis and statin initiation. The COI of the study cohort was significantly higher than that of the catchment area (P < .001).

Black race was associated with older age at HeFH diagnosis; however, there were no differences in age at statin initiation. The COI of the cohort was significantly higher than that of the catchment area indicating that low COI populations are likely under-referred for HeFH evaluation.