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 journalArticlepeer-review

32 Scopus citations


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)
Pages (from-to)1223-1229
Number of pages7
JournalJournal of Clinical Lipidology
Issue number5
StatePublished - Sep 1 2016


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

ASJC Scopus subject areas

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


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