Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry


      • Disparities by sex and race/ethnicity were noted in US lipid clinics.
      • Women were less likely than men to achieve LDL-C goals and to receive statins.
      • Asians and blacks were 40–50% less likely to achieve LDL-C goals than whites.


      Background and aims

      Most familial hypercholesterolemia (FH) patients remain undertreated, and it is unclear what role health disparities may play for FH patients in the US. We sought to describe sex and racial/ethnic disparities in a national registry of US FH patients.


      We analyzed data from 3167 adults enrolled in the CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia (CASCADE-FH) registry. Logistic regression was used to evaluate for disparities in LDL-C goals and statin use, with adjustments for covariates including age, cardiovascular risk factors, and statin intolerance.


      In adjusted analyses, women were less likely than men to achieve treated LDL-C of <100 mg/dL (OR 0.68, 95% CI, 0.57–0.82) or ≥50% reduction from pretreatment LDL-C (OR 0.79, 95% CI, 0.65–0.96). Women were less likely than men to receive statin therapy (OR, 0.60, 95% CI, 0.50–0.73) and less likely to receive a high-intensity statin (OR, 0.60, 95% CI, 0.49–0.72). LDL-C goal achievement also varied by race/ethnicity: compared with whites, Asians and blacks were less likely to achieve LDL-C levels <100 mg/dL (Asians, OR, 0.47, 95% CI, 0.24–0.94; blacks, OR, 0.49, 95% CI, 0.32–0.74) or ≥50% reduction from pretreatment LDL-C (Asians, OR 0.56, 95% CI, 0.32–0.98; blacks, OR 0.62, 95% CI, 0.43–0.90).


      In a contemporary US population of FH patients, we identified differences in LDL-C goal attainment and statin usage after stratifying the population by either sex or race/ethnicity. Our findings suggest that health disparities contribute to the undertreatment of US FH patients. Increased efforts are warranted to raise awareness of these disparities.



      ASCVD (atherosclerotic cardiovascular disease), FH (familial hypercholesterolemia), LDL-C (low-density lipoprotein cholesterol), PCSK9 (proprotein convertase subtilisin/kexin type 9)
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