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



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.



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.



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.



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.
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern, Dallas, TX, USA.
Zahid S
ZS
Ahmad
Lancaster General Health/Penn Medicine, Lancaster, PA, USA.
Rolf L
RL
Andersen
Lancaster General Health/Penn Medicine, Lancaster, PA, USA.
Lars H
LH
Andersen
Department of Medicine, Duke Clinical Research Institute, Durham, NC, USA.
Emily C
EC
O'Brien
The FH Foundation, South Pasadena, CA, USA.
Iris
I
Kindt
Department of Medicine, Duke Clinical Research Institute, Durham, NC, USA.
Peter
P
Shrader
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern, Dallas, TX, USA.
Chandna
C
Vasandani
Department of Medicine, New York University School of Medicine, New York, NY, USA.
Connie B
CB
Newman
Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Emil M
EM
deGoma
Preventive Cardiology Inc., Boca Raton, FL, USA.
Seth J
SJ
Baum
Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.
Linda C
LC
Hemphill
The Rogosin Institute, New York, NY, USA.
Lisa C
LC
Hudgins
The FH Foundation, South Pasadena, CA, USA.
Catherine D
CD
Ahmed
Mayo Clinic, Rochester, MN, USA.
Iftikhar J
IJ
Kullo
Department of Pediatrics, Nemours Cardiac Center, Wilmington, DE, USA.
Samuel S
SS
Gidding
Division of Cardiology, Thomas Jefferson University, Philadelphia, PA, USA.
Danielle
D
Duffy
Department of Pediatrics, West Virginia University, Morgantown, WV, USA.
William
W
Neal
The FH Foundation, South Pasadena, CA, USA.
Katherine
K
Wilemon
Department of Medicine, Duke Clinical Research Institute, Durham, NC, USA.
Matthew T
MT
Roe
Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Daniel J
DJ
Rader
Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Christie M
CM
Ballantyne
Vanderbilt University School of Medicine, Nashville, TN, USA.
MacRae F
MF
Linton
Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.
P Barton
PB
Duell
Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR, USA.
Michael D
MD
Shapiro
University of Kansas Medical Center, Kansas City, KS, USA.
Patrick M
PM
Moriarty
Department of Medicine, Stanford University, Stanford, CA, USA. Electronic address: knowlej@stanford.edu.
Joshua W
JW
Knowles
D000328:Adult; D008078:Cholesterol, LDL / Q000097:blood; D003430:Cross-Sectional Studies; D016208:Databases, Factual; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D010820:Physicians; D012042:Registries; D014481:United States
D008078:Cholesterol, LDL
Dutch lipid clinic network; Familial hypercholesterolemia; Hypercholesterolemia; MEDPED; Simon Broome
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