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

Publication ,  Journal Article
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 ...
Published in: Circ Cardiovasc Genet
June 2016

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.

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Published In

Circ Cardiovasc Genet

DOI

EISSN

1942-3268

Publication Date

June 2016

Volume

9

Issue

3

Start / End Page

240 / 249

Location

United States

Related Subject Headings

  • United States
  • Treatment Outcome
  • Time Factors
  • Risk Factors
  • Registries
  • Professional Practice Gaps
  • Prevalence
  • Predictive Value of Tests
  • Practice Patterns, Physicians'
  • Practice Guidelines as Topic
 

Citation

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deGoma, E. M., Ahmad, Z. S., O’Brien, E. C., Kindt, I., Shrader, P., Newman, C. B., … Knowles, J. W. (2016). Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. Circ Cardiovasc Genet, 9(3), 240–249. https://doi.org/10.1161/CIRCGENETICS.116.001381
deGoma, Emil M., Zahid S. Ahmad, Emily C. O’Brien, Iris Kindt, Peter Shrader, Connie B. Newman, Yashashwi Pokharel, et al. “Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.Circ Cardiovasc Genet 9, no. 3 (June 2016): 240–49. https://doi.org/10.1161/CIRCGENETICS.116.001381.
deGoma EM, Ahmad ZS, O’Brien EC, Kindt I, Shrader P, Newman CB, et al. Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. Circ Cardiovasc Genet. 2016 Jun;9(3):240–9.
deGoma, Emil M., et al. “Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.Circ Cardiovasc Genet, vol. 9, no. 3, June 2016, pp. 240–49. Pubmed, doi:10.1161/CIRCGENETICS.116.001381.
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. Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry. Circ Cardiovasc Genet. 2016 Jun;9(3):240–249.

Published In

Circ Cardiovasc Genet

DOI

EISSN

1942-3268

Publication Date

June 2016

Volume

9

Issue

3

Start / End Page

240 / 249

Location

United States

Related Subject Headings

  • United States
  • Treatment Outcome
  • Time Factors
  • Risk Factors
  • Registries
  • Professional Practice Gaps
  • Prevalence
  • Predictive Value of Tests
  • Practice Patterns, Physicians'
  • Practice Guidelines as Topic