US physician practices for diagnosing familial hypercholesterolemia: Data from the CASCADE-FH registry

Zahid S. Ahmad, Rolf L. Andersen, Lars H. Andersen, Emily C. O'Brien, Iris Kindt, Peter Shrader, Chandna Vasandani, Connie B. Newman, Emil M. deGoma, Seth J. Baum, Linda C. Hemphill, Lisa C. Hudgins, Catherine D. Ahmed, Iftikhar J. Kullo, Samuel S. Gidding, Danielle Duffy, William Neal, Katherine Wilemon, Matthew T. Roe, Daniel J. RaderChristie M. Ballantyne, MacRae F. Linton, P. Barton Duell, Michael D. Shapiro, Patrick M. Moriarty, Joshua W. Knowles

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Background: In the US familial hypercholesterolemia (FH), patients are underidentified, despite an estimated prevalence of 1:200 to 1:500. Criteria to identify FH patients include Simon Broome, Dutch Lipid Clinic Network (DLCN), or Make Early Diagnosis to Prevent Early Deaths (MEDPED). The use of these criteria in US clinical practices remains unclear. Objective: To characterize the FH diagnostic criteria applied by US lipid specialists participating in the FH Foundation's CASCADE FH (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia) patient registry. Methods: We performed an observational, cross-sectional analysis of diagnostic criteria chosen for each adult patient, both overall and by baseline patient characteristics, at 15 clinical sites that had contributed data to the registry as of September 8, 2015. A sample of 1867 FH adults was analyzed. The median age at FH diagnosis was 50 years, and the median pretreatment low-density lipoprotein cholesterol (LDL-C) value was 238 mg/dL. The main outcome was the diagnostic criteria chosen. Diagnostic criteria were divided into five nonexclusive categories: "clinical diagnosis," MEDPED, Simon Broome, DLCN, and other. Results: Most adults enrolled in CASCADE FH (55.0%) received a "clinical diagnosis." The most commonly used formal criteria was Simon-Broome only (21%), followed by multiple diagnostic criteria (16%), MEDPED only (7%), DLCN only (1%), and other (0.5%), . P < .0001. Of the patients with only a "clinical diagnosis," 93% would have met criteria for Simon Broome, DLCN, or MEDPED based on the data available in the registry. Conclusions: Our findings demonstrate heterogeneity in the application of FH diagnostic criteria in the United States. A nationwide consensus definition may lead to better identification, earlier treatment, and ultimately CHD prevention.

Original languageEnglish (US)
JournalJournal of Clinical Lipidology
DOIs
StateAccepted/In press - Mar 11 2016

Fingerprint

Hyperlipoproteinemia Type II
Registries
Physicians
Early Diagnosis
Lipids
LDL Cholesterol
Cross-Sectional Studies

Keywords

  • Dutch lipid clinic network
  • Familial hypercholesterolemia
  • Hypercholesterolemia
  • MEDPED
  • Simon Broome

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics
  • Cardiology and Cardiovascular Medicine

Cite this

US physician practices for diagnosing familial hypercholesterolemia : Data from the CASCADE-FH registry. / Ahmad, Zahid S.; Andersen, Rolf L.; Andersen, Lars H.; O'Brien, Emily C.; Kindt, Iris; Shrader, Peter; Vasandani, Chandna; Newman, Connie B.; deGoma, Emil M.; Baum, Seth J.; Hemphill, Linda C.; Hudgins, Lisa C.; Ahmed, Catherine D.; Kullo, Iftikhar J.; Gidding, Samuel S.; Duffy, Danielle; Neal, William; Wilemon, Katherine; Roe, Matthew T.; Rader, Daniel J.; Ballantyne, Christie M.; Linton, MacRae F.; Duell, P. Barton; Shapiro, Michael D.; Moriarty, Patrick M.; Knowles, Joshua W.

In: Journal of Clinical Lipidology, 11.03.2016.

Research output: Contribution to journalArticle

Ahmad, ZS, Andersen, RL, Andersen, LH, O'Brien, EC, Kindt, I, Shrader, P, Vasandani, C, Newman, CB, deGoma, EM, Baum, SJ, Hemphill, LC, Hudgins, LC, Ahmed, CD, Kullo, IJ, Gidding, SS, Duffy, D, Neal, W, Wilemon, K, Roe, MT, Rader, DJ, Ballantyne, CM, Linton, MF, Duell, PB, Shapiro, MD, Moriarty, PM & Knowles, JW 2016, 'US physician practices for diagnosing familial hypercholesterolemia: Data from the CASCADE-FH registry', Journal of Clinical Lipidology. https://doi.org/10.1016/j.jacl.2016.07.011
Ahmad, Zahid S. ; Andersen, Rolf L. ; Andersen, Lars H. ; O'Brien, Emily C. ; Kindt, Iris ; Shrader, Peter ; Vasandani, Chandna ; Newman, Connie B. ; deGoma, Emil M. ; Baum, Seth J. ; Hemphill, Linda C. ; Hudgins, Lisa C. ; Ahmed, Catherine D. ; Kullo, Iftikhar J. ; Gidding, Samuel S. ; Duffy, Danielle ; Neal, William ; Wilemon, Katherine ; Roe, Matthew T. ; Rader, Daniel J. ; Ballantyne, Christie M. ; Linton, MacRae F. ; Duell, P. Barton ; Shapiro, Michael D. ; Moriarty, Patrick M. ; Knowles, Joshua W. / US physician practices for diagnosing familial hypercholesterolemia : Data from the CASCADE-FH registry. In: Journal of Clinical Lipidology. 2016.
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abstract = "Background: In the US familial hypercholesterolemia (FH), patients are underidentified, despite an estimated prevalence of 1:200 to 1:500. Criteria to identify FH patients include Simon Broome, Dutch Lipid Clinic Network (DLCN), or Make Early Diagnosis to Prevent Early Deaths (MEDPED). The use of these criteria in US clinical practices remains unclear. Objective: To characterize the FH diagnostic criteria applied by US lipid specialists participating in the FH Foundation's CASCADE FH (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia) patient registry. Methods: We performed an observational, cross-sectional analysis of diagnostic criteria chosen for each adult patient, both overall and by baseline patient characteristics, at 15 clinical sites that had contributed data to the registry as of September 8, 2015. A sample of 1867 FH adults was analyzed. The median age at FH diagnosis was 50 years, and the median pretreatment low-density lipoprotein cholesterol (LDL-C) value was 238 mg/dL. The main outcome was the diagnostic criteria chosen. Diagnostic criteria were divided into five nonexclusive categories: {"}clinical diagnosis,{"} MEDPED, Simon Broome, DLCN, and other. Results: Most adults enrolled in CASCADE FH (55.0{\%}) received a {"}clinical diagnosis.{"} The most commonly used formal criteria was Simon-Broome only (21{\%}), followed by multiple diagnostic criteria (16{\%}), MEDPED only (7{\%}), DLCN only (1{\%}), and other (0.5{\%}), . P < .0001. Of the patients with only a {"}clinical diagnosis,{"} 93{\%} would have met criteria for Simon Broome, DLCN, or MEDPED based on the data available in the registry. Conclusions: Our findings demonstrate heterogeneity in the application of FH diagnostic criteria in the United States. A nationwide consensus definition may lead to better identification, earlier treatment, and ultimately CHD prevention.",
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author = "Ahmad, {Zahid S.} and Andersen, {Rolf L.} and Andersen, {Lars H.} and O'Brien, {Emily C.} and Iris Kindt and Peter Shrader and Chandna Vasandani and Newman, {Connie B.} and deGoma, {Emil M.} and Baum, {Seth J.} and Hemphill, {Linda C.} and Hudgins, {Lisa C.} and Ahmed, {Catherine D.} and Kullo, {Iftikhar J.} and Gidding, {Samuel S.} and Danielle Duffy and William Neal and Katherine Wilemon and Roe, {Matthew T.} and Rader, {Daniel J.} and Ballantyne, {Christie M.} and Linton, {MacRae F.} and Duell, {P. Barton} and Shapiro, {Michael D.} and Moriarty, {Patrick M.} and Knowles, {Joshua W.}",
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TY - JOUR

T1 - US physician practices for diagnosing familial hypercholesterolemia

T2 - Data from the CASCADE-FH registry

AU - Ahmad, Zahid S.

AU - Andersen, Rolf L.

AU - Andersen, Lars H.

AU - O'Brien, Emily C.

AU - Kindt, Iris

AU - Shrader, Peter

AU - Vasandani, Chandna

AU - Newman, Connie B.

AU - deGoma, Emil M.

AU - Baum, Seth J.

AU - Hemphill, Linda C.

AU - Hudgins, Lisa C.

AU - Ahmed, Catherine D.

AU - Kullo, Iftikhar J.

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, MacRae F.

AU - Duell, P. Barton

AU - Shapiro, Michael D.

AU - Moriarty, Patrick M.

AU - Knowles, Joshua W.

PY - 2016/3/11

Y1 - 2016/3/11

N2 - Background: In the US familial hypercholesterolemia (FH), patients are underidentified, despite an estimated prevalence of 1:200 to 1:500. Criteria to identify FH patients include Simon Broome, Dutch Lipid Clinic Network (DLCN), or Make Early Diagnosis to Prevent Early Deaths (MEDPED). The use of these criteria in US clinical practices remains unclear. Objective: To characterize the FH diagnostic criteria applied by US lipid specialists participating in the FH Foundation's CASCADE FH (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia) patient registry. Methods: We performed an observational, cross-sectional analysis of diagnostic criteria chosen for each adult patient, both overall and by baseline patient characteristics, at 15 clinical sites that had contributed data to the registry as of September 8, 2015. A sample of 1867 FH adults was analyzed. The median age at FH diagnosis was 50 years, and the median pretreatment low-density lipoprotein cholesterol (LDL-C) value was 238 mg/dL. The main outcome was the diagnostic criteria chosen. Diagnostic criteria were divided into five nonexclusive categories: "clinical diagnosis," MEDPED, Simon Broome, DLCN, and other. Results: Most adults enrolled in CASCADE FH (55.0%) received a "clinical diagnosis." The most commonly used formal criteria was Simon-Broome only (21%), followed by multiple diagnostic criteria (16%), MEDPED only (7%), DLCN only (1%), and other (0.5%), . P < .0001. Of the patients with only a "clinical diagnosis," 93% would have met criteria for Simon Broome, DLCN, or MEDPED based on the data available in the registry. Conclusions: Our findings demonstrate heterogeneity in the application of FH diagnostic criteria in the United States. A nationwide consensus definition may lead to better identification, earlier treatment, and ultimately CHD prevention.

AB - Background: In the US familial hypercholesterolemia (FH), patients are underidentified, despite an estimated prevalence of 1:200 to 1:500. Criteria to identify FH patients include Simon Broome, Dutch Lipid Clinic Network (DLCN), or Make Early Diagnosis to Prevent Early Deaths (MEDPED). The use of these criteria in US clinical practices remains unclear. Objective: To characterize the FH diagnostic criteria applied by US lipid specialists participating in the FH Foundation's CASCADE FH (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia) patient registry. Methods: We performed an observational, cross-sectional analysis of diagnostic criteria chosen for each adult patient, both overall and by baseline patient characteristics, at 15 clinical sites that had contributed data to the registry as of September 8, 2015. A sample of 1867 FH adults was analyzed. The median age at FH diagnosis was 50 years, and the median pretreatment low-density lipoprotein cholesterol (LDL-C) value was 238 mg/dL. The main outcome was the diagnostic criteria chosen. Diagnostic criteria were divided into five nonexclusive categories: "clinical diagnosis," MEDPED, Simon Broome, DLCN, and other. Results: Most adults enrolled in CASCADE FH (55.0%) received a "clinical diagnosis." The most commonly used formal criteria was Simon-Broome only (21%), followed by multiple diagnostic criteria (16%), MEDPED only (7%), DLCN only (1%), and other (0.5%), . P < .0001. Of the patients with only a "clinical diagnosis," 93% would have met criteria for Simon Broome, DLCN, or MEDPED based on the data available in the registry. Conclusions: Our findings demonstrate heterogeneity in the application of FH diagnostic criteria in the United States. A nationwide consensus definition may lead to better identification, earlier treatment, and ultimately CHD prevention.

KW - Dutch lipid clinic network

KW - Familial hypercholesterolemia

KW - Hypercholesterolemia

KW - MEDPED

KW - Simon Broome

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