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, Mac Rae F Linton, Paul DuellMichael Shapiro, Patrick M. Moriarty, Joshua W. Knowles

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

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 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
Volume9
Issue number3
DOIs
StatePublished - Jun 1 2016

Fingerprint

Hyperlipoproteinemia Type II
LDL Cholesterol
Coronary Disease
Registries
Therapeutics
Lipids
LDL Lipoproteins
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Early Diagnosis
Cardiovascular Diseases
Cross-Sectional Studies
Guidelines

Keywords

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

ASJC Scopus subject areas

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

Cite this

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. Circulation: Cardiovascular Genetics, 9(3), 240-249. https://doi.org/10.1161/CIRCGENETICS.116.001381

Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States. / Degoma, Emil M.; Ahmad, Zahid S.; O'Brien, Emily C.; Kindt, Iris; Shrader, Peter; Newman, Connie B.; Pokharel, Yashashwi; Baum, Seth J.; Hemphill, Linda C.; Hudgins, Lisa C.; Ahmed, Catherine D.; Gidding, Samuel S.; Duffy, Danielle; Neal, William; Wilemon, Katherine; Roe, Matthew T.; Rader, Daniel J.; Ballantyne, Christie M.; Linton, Mac Rae F; Duell, Paul; Shapiro, Michael; Moriarty, Patrick M.; Knowles, Joshua W.

In: Circulation: Cardiovascular Genetics, Vol. 9, No. 3, 01.06.2016, p. 240-249.

Research output: Contribution to journalArticle

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, MRF, Duell, P, Shapiro, M, Moriarty, PM & Knowles, JW 2016, 'Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States', Circulation: Cardiovascular Genetics, vol. 9, no. 3, pp. 240-249. https://doi.org/10.1161/CIRCGENETICS.116.001381
Degoma, Emil M. ; Ahmad, Zahid S. ; O'Brien, Emily C. ; Kindt, Iris ; Shrader, Peter ; Newman, Connie B. ; Pokharel, Yashashwi ; Baum, Seth J. ; Hemphill, Linda C. ; Hudgins, Lisa C. ; Ahmed, Catherine D. ; Gidding, Samuel S. ; Duffy, Danielle ; Neal, William ; Wilemon, Katherine ; Roe, Matthew T. ; Rader, Daniel J. ; Ballantyne, Christie M. ; Linton, Mac Rae F ; Duell, Paul ; Shapiro, Michael ; Moriarty, Patrick M. ; Knowles, Joshua W. / Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States. In: Circulation: Cardiovascular Genetics. 2016 ; Vol. 9, No. 3. pp. 240-249.
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AU - Degoma, Emil M.

AU - Ahmad, Zahid S.

AU - O'Brien, Emily C.

AU - Kindt, Iris

AU - Shrader, Peter

AU - Newman, Connie B.

AU - Pokharel, Yashashwi

AU - Baum, Seth J.

AU - Hemphill, Linda C.

AU - Hudgins, Lisa C.

AU - Ahmed, Catherine D.

AU - Gidding, Samuel S.

AU - Duffy, Danielle

AU - Neal, William

AU - Wilemon, Katherine

AU - Roe, Matthew T.

AU - Rader, Daniel J.

AU - Ballantyne, Christie M.

AU - Linton, Mac Rae F

AU - Duell, Paul

AU - Shapiro, Michael

AU - Moriarty, Patrick M.

AU - Knowles, Joshua W.

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N2 - 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 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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KW - coronary artery disease

KW - familial hypercholesterolemia

KW - genetic heart disease

KW - low-density lipoprotein cholesterol

KW - statin therapy

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