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

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • June 2016

Published In

Volume / Issue

  • 9 / 3

Start / End Page

  • 240 - 249

PubMed ID

  • 27013694

Pubmed Central ID

  • 27013694

Electronic International Standard Serial Number (EISSN)

  • 1942-3268

Digital Object Identifier (DOI)

  • 10.1161/CIRCGENETICS.116.001381

Language

  • eng

Conference Location

  • United States