Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry
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 knowledg...
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| Published in | Circulation. Cardiovascular genetics Vol. 9; no. 3; pp. 240 - 249 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
American Heart Association, Inc
01.06.2016
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| Subjects | |
| Online Access | Get full text |
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| 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 <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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| AbstractList | 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. 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. 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). 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. 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.BACKGROUNDCardiovascular 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.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).METHODS AND RESULTSWe 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).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.CONCLUSIONSFH 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. |
| Author | Newman, Connie B. Ballantyne, Christie M. O’Brien, Emily C. Linton, MacRae F. Baum, Seth J. Shrader, Peter Rader, Daniel J. Kindt, Iris Wilemon, Katherine Hemphill, Linda C. Neal, William Roe, Matthew T. deGoma, Emil M. Duell, P. Barton Duffy, Danielle Pokharel, Yashashwi Shapiro, Michael D. Hudgins, Lisa C. Gidding, Samuel S. Moriarty, Patrick M. Ahmad, Zahid S. Ahmed, Catherine D. Knowles, Joshua W. |
| AuthorAffiliation | From the University of Pennsylvania, Philadelphia (E.M.d., D.J.R.); University of Texas Southwestern, Dallas (Z.S.A.); Duke Clinical Research Institute, Durham, NC (E.C.O., P.S., M.T.R.); The FH Foundation, South Pasadena, CA (I.K., C.D.A., K.W.); New York University School of Medicine (C.B.N.); Mid America Heart Institute, Kansas City, MO (Y.P.); Preventive Cardiology Inc, Boca Raton, FL (S.J.B.); Massachusetts General Hospital, Boston (L.C. Hemphill); The Rogosin Institute, New York, NY (L.C. Hudgins); Nemours Cardiac Center, Wilmington, DE (S.S.G.); Thomas Jefferson University Hospital, Philadelphia, PA (D.D.); West Virginia University, Morgantown (W.N.); Baylor College of Medicine, Houston, TX (C.M.B.); Vanderbilt University School of Medicine, Nashville, TN (M.F.L.); Oregon Health and Science University, Portland, OR (P.B.D., M.D.S.); University of Kansas Medical Center (P.M.M.); and Stanford University, CA (J.W.K.) |
| AuthorAffiliation_xml | – name: From the University of Pennsylvania, Philadelphia (E.M.d., D.J.R.); University of Texas Southwestern, Dallas (Z.S.A.); Duke Clinical Research Institute, Durham, NC (E.C.O., P.S., M.T.R.); The FH Foundation, South Pasadena, CA (I.K., C.D.A., K.W.); New York University School of Medicine (C.B.N.); Mid America Heart Institute, Kansas City, MO (Y.P.); Preventive Cardiology Inc, Boca Raton, FL (S.J.B.); Massachusetts General Hospital, Boston (L.C. Hemphill); The Rogosin Institute, New York, NY (L.C. Hudgins); Nemours Cardiac Center, Wilmington, DE (S.S.G.); Thomas Jefferson University Hospital, Philadelphia, PA (D.D.); West Virginia University, Morgantown (W.N.); Baylor College of Medicine, Houston, TX (C.M.B.); Vanderbilt University School of Medicine, Nashville, TN (M.F.L.); Oregon Health and Science University, Portland, OR (P.B.D., M.D.S.); University of Kansas Medical Center (P.M.M.); and Stanford University, CA (J.W.K.) |
| Author_xml | – sequence: 1 givenname: Emil surname: deGoma middlename: M. fullname: deGoma, Emil M. organization: From the University of Pennsylvania, Philadelphia (E.M.d., D.J.R.); University of Texas Southwestern, Dallas (Z.S.A.); Duke Clinical Research Institute, Durham, NC (E.C.O., P.S., M.T.R.); The FH Foundation, South Pasadena, CA (I.K., C.D.A., K.W.); New York University School of Medicine (C.B.N.); Mid America Heart Institute, Kansas City, MO (Y.P.); Preventive Cardiology Inc, Boca Raton, FL (S.J.B.); Massachusetts General Hospital, Boston (L.C. Hemphill); The Rogosin Institute, New York, NY (L.C. Hudgins); Nemours Cardiac Center, Wilmington, DE (S.S.G.); Thomas Jefferson University Hospital, Philadelphia, PA (D.D.); West Virginia University, Morgantown (W.N.); Baylor College of Medicine, Houston, TX (C.M.B.); Vanderbilt University School of Medicine, Nashville, TN (M.F.L.); Oregon Health and Science University, Portland, OR (P.B.D., M.D.S.); University of Kansas Medical Center (P.M.M.); and Stanford University, CA (J.W.K.) – sequence: 2 givenname: Zahid surname: Ahmad middlename: S. fullname: Ahmad, Zahid S. – sequence: 3 givenname: Emily surname: O’Brien middlename: C. fullname: O’Brien, Emily C. – sequence: 4 givenname: Iris surname: Kindt fullname: Kindt, Iris – sequence: 5 givenname: Peter surname: Shrader fullname: Shrader, Peter – sequence: 6 givenname: Connie surname: Newman middlename: B. fullname: Newman, Connie B. – sequence: 7 givenname: Yashashwi surname: Pokharel fullname: Pokharel, Yashashwi – sequence: 8 givenname: Seth surname: Baum middlename: J. fullname: Baum, Seth J. – sequence: 9 givenname: Linda surname: Hemphill middlename: C. fullname: Hemphill, Linda C. – sequence: 10 givenname: Lisa surname: Hudgins middlename: C. fullname: Hudgins, Lisa C. – sequence: 11 givenname: Catherine surname: Ahmed middlename: D. fullname: Ahmed, Catherine D. – sequence: 12 givenname: Samuel surname: Gidding middlename: S. fullname: Gidding, Samuel S. – sequence: 13 givenname: Danielle surname: Duffy fullname: Duffy, Danielle – sequence: 14 givenname: William surname: Neal fullname: Neal, William – sequence: 15 givenname: Katherine surname: Wilemon fullname: Wilemon, Katherine – sequence: 16 givenname: Matthew surname: Roe middlename: T. fullname: Roe, Matthew T. – sequence: 17 givenname: Daniel surname: Rader middlename: J. fullname: Rader, Daniel J. – sequence: 18 givenname: Christie surname: Ballantyne middlename: M. fullname: Ballantyne, Christie M. – sequence: 19 givenname: MacRae surname: Linton middlename: F. fullname: Linton, MacRae F. – sequence: 20 givenname: P. surname: Duell middlename: Barton fullname: Duell, P. Barton – sequence: 21 givenname: Michael surname: Shapiro middlename: D. fullname: Shapiro, Michael D. – sequence: 22 givenname: Patrick surname: Moriarty middlename: M. fullname: Moriarty, Patrick M. – sequence: 23 givenname: Joshua surname: Knowles middlename: W. fullname: Knowles, Joshua W. |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27013694$$D View this record in MEDLINE/PubMed |
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| ContentType | Journal Article |
| Copyright | 2016 American Heart Association, Inc. |
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| Keywords | coronary artery disease genetic heart disease low-density lipoprotein cholesterol familial hypercholesterolemia statin therapy |
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| Snippet | BACKGROUND—Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly... Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly described. In... |
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| SubjectTerms | Adult Aged Biomarkers - blood Chi-Square Distribution Cholesterol, LDL - blood Comorbidity Coronary Disease - epidemiology Coronary Disease - genetics Coronary Disease - prevention & control Cross-Sectional Studies Diabetes Mellitus - epidemiology Down-Regulation Early Diagnosis Female Genetic Predisposition to Disease Guideline Adherence Heterozygote Humans Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use Hyperlipoproteinemia Type II - blood Hyperlipoproteinemia Type II - drug therapy Hyperlipoproteinemia Type II - epidemiology Hyperlipoproteinemia Type II - genetics Hypertension - epidemiology Logistic Models Male Middle Aged Multivariate Analysis Odds Ratio Phenotype Practice Guidelines as Topic Practice Patterns, Physicians' - standards Predictive Value of Tests Prevalence Professional Practice Gaps - standards Registries Risk Factors Time Factors Treatment Outcome United States |
| Title | Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry |
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