Abstract 12169: LDL-C Levels and Treatment Patterns Among Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry

Introduction: In the US, LDL-C levels and treatment patterns of patients with familial hypercholesterolemia (FH) – a group prioritized for statin therapy in the 2013 ACC/AHA cholesterol guidelines – remain poorly described. In 2013 the FH Foundation launched the CAscade SCreening for Awareness and DEtection (CASCADE) of FH Registry, the only active US FH patient registry addressing this knowledge gap. Methods: We conducted a 2-year (2013-2015) cross-sectional analysis among 1,295 adults with heterozygous FH enrolled in the CASCADE FH Registry from 10 US lipid clinics. Results: Mean (SD) age at enrollment was 54 (16) years; mean age at FH diagnosis was 45 (19) years; 59% were female; and 80% were white. Mean pretreatment and post-treatment LDL-C levels were 256 (66) and 156 (71) mg/dl, respectively. At enrollment, 43% of patients were taking high-intensity statin therapy; 25% were not taking a statin; and 45% received >1 LDL-lowering therapy. Among FH patients on LDL-lowering therapy, 25% achieved an LDL-C <100 mg/dl, and 41% achieved a ≥50% LDL-C reduction (Table). Factors associated with a ≥50% LDL-C reduction included high-intensity statin use (adjusted OR 2.24, 95% CI 1.47-3.42) and use of >1 LDL-lowering therapy (1.94, 1.29-2.93) (Figure). Atherosclerotic cardiovascular disease (ASCVD) was present in 37%, of whom 44% achieved a ≥50% LDL-C reduction and 9% achieved an LDL-C <70 mg/dl. Conclusions: Despite the high prevalence of ASCVD, several care gaps exist for FH patients enrolled in the CASCADE US registry: lack of early diagnosis, insufficient use of high-intensity statin therapy, and failure to achieve adequate LDL-C reductions.