Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States

Emil M. Degoma, Zahid S. Ahmad, Emily C. O'Brien, Iris Kindt, Peter Shrader, Connie B. Newman, Yashashwi Pokharel, Seth J. Baum, Linda C. Hemphill, Lisa C. Hudgins, Catherine D. Ahmed, Samuel S. Gidding, Danielle Duffy, William Neal, Katherine Wilemon, Matthew T. Roe, Daniel J. Rader, Christie M. Ballantyne, MacRae F. Linton, P. Barton DuellMichael D. Shapiro, Patrick M. Moriarty, Joshua W. Knowles

Research output: Contribution to journalArticlepeer-review

149 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)240-249
Number of pages10
JournalCirculation: Cardiovascular Genetics
Issue number3
StatePublished - Jun 1 2016


  • coronary artery disease
  • familial hypercholesterolemia
  • genetic heart disease
  • low-density lipoprotein cholesterol
  • statin therapy

ASJC Scopus subject areas

  • Genetics
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)


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