Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.

deGoma EM, Ahmad ZS, O'Brien EC, Kindt I, Shrader P, Newman CB, Pokharel Y, Baum SJ, Hemphill LC, Hudgins LC, Ahmed CD, Gidding SS, Duffy D, Neal W, Wilemon K, Roe MT, Rader DJ, Ballantyne CM, Linton MF, Duell PB, Shapiro MD, Moriarty PM, Knowles JW
Circ Cardiovasc Genet. 2016 9 (3): 240-9

PMID: 27013694 · PMCID: PMC5315030 · DOI:10.1161/CIRCGENETICS.116.001381

BACKGROUND - Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly described. In 2013, the FH Foundation launched the Cascade Screening for Awareness and Detection (CASCADE) of FH Registry to address this knowledge gap.

METHODS AND RESULTS - We conducted a cross-sectional analysis of 1295 adults with heterozygous FH enrolled in the CASCADE-FH Registry from 11 US lipid clinics. Median age at initiation of lipid-lowering therapy was 39 years, and median age at FH diagnosis was 47 years. Prevalent coronary heart disease was reported in 36% of patients, and 61% exhibited 1 or more modifiable risk factors. Median untreated low-density lipoprotein cholesterol (LDL-C) was 239 mg/dL. At enrollment, median LDL-C was 141 mg/dL; 42% of patients were taking high-intensity statin therapy and 45% received >1 LDL-lowering medication. Among FH patients receiving LDL-lowering medication(s), 25% achieved an LDL-C <100 mg/dL and 41% achieved a ≥50% LDL-C reduction. Factors associated with prevalent coronary heart disease included diabetes mellitus (adjusted odds ratio 1.74; 95% confidence interval 1.08-2.82) and hypertension (2.48; 1.92-3.21). Factors associated with a ≥50% LDL-C reduction from untreated levels included high-intensity statin use (7.33; 1.86-28.86) and use of >1 LDL-lowering medication (1.80; 1.34-2.41).

CONCLUSIONS - FH patients in the CASCADE-FH Registry are diagnosed late in life and often do not achieve adequate LDL-C lowering, despite a high prevalence of coronary heart disease and risk factors. These findings highlight the need for earlier diagnosis of FH and initiation of lipid-lowering therapy, more consistent use of guideline-recommended LDL-lowering therapy, and comprehensive management of traditional coronary heart disease risk factors.

© 2016 American Heart Association, Inc.

MeSH Terms (35)

Adult Aged Biomarkers Chi-Square Distribution Cholesterol, LDL Comorbidity Coronary Disease Cross-Sectional Studies Diabetes Mellitus Down-Regulation Early Diagnosis Female Genetic Predisposition to Disease Guideline Adherence Heterozygote Humans Hydroxymethylglutaryl-CoA Reductase Inhibitors Hyperlipoproteinemia Type II Hypertension Logistic Models Male Middle Aged Multivariate Analysis Odds Ratio Phenotype Practice Guidelines as Topic Practice Patterns, Physicians' Predictive Value of Tests Prevalence Professional Practice Gaps Registries Risk Factors Time Factors Treatment Outcome United States

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