title: Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.
abstract: BACKGROUND
  Familial hypercholesterolemia (FH) is a hereditary condition caused by various genetic mutations that lead to significantly elevated low-density lipoprotein cholesterol levels and resulting in a 20-fold increased lifetime risk for premature cardiovascular disease. Although its prevalence in the United States is 1 in 300 to 500 individuals, <10% of FH patients are formally diagnosed, and many are not appropriately treated. Contemporary data are needed to more fully characterize FH disease prevalence, treatment strategies, and patient experiences in the United States.
  
  
  METHODS
  The Familial Hypercholesterolemia Foundation (a patient-led nonprofit organization) has established the CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia (CASCADE FH) Registry as a national, multicenter initiative to identify US FH patients, track their treatment, and clinical and patient-reported outcomes over time. The CASCADE FH will use multiple enrollment strategies to maximize identification of FH patients. Electronic health record screening of health care systems will provide an efficient mechanism to identify undiagnosed patients. A group of specialized lipid clinics will enter baseline and annual follow-up data on demographics, laboratory values, treatment, and clinical events. Patients meeting prespecified low-density lipoprotein or total cholesterol criteria suspicious for FH will have the opportunity to self-enroll in an online patient portal with information collected directly from patients semiannually. Registry patients will be provided information on cascade screening and will complete an online pedigree to assist with notification of family members.
  
  
  CONCLUSIONS
  The Familial Hypercholesterolemia Foundation CASCADE FH Registry represents a novel research paradigm to address gaps in knowledge and barriers to comprehensive FH screening, identification, and treatment.
authors.affiliation: Duke Clinical Research Institute, Durham, NC. Electronic address: emily.obrien@duke.edu.
authors.forename: Emily C
authors.initials: EC
authors.lastname: O'Brien
authors.affiliation: Duke Clinical Research Institute, Durham, NC.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Roe
authors.affiliation: Duke Clinical Research Institute, Durham, NC.
authors.forename: Elizabeth S
authors.initials: ES
authors.lastname: Fraulo
authors.affiliation: Duke Clinical Research Institute, Durham, NC.
authors.forename: Eric D
authors.initials: ED
authors.lastname: Peterson
authors.affiliation: Baylor College of Medicine, Houston, TX.
authors.forename: Christie M
authors.initials: CM
authors.lastname: Ballantyne
authors.affiliation: McGill University Health Center, Montreal, Canada.
authors.forename: Jacques
authors.initials: J
authors.lastname: Genest
authors.affiliation: A.I. DuPont Hospital for Children, Wilmington, DE.
authors.forename: Samuel S
authors.initials: SS
authors.lastname: Gidding
authors.affiliation: Western Australian Department of Health, Perth, Western Australia.
authors.forename: Emma
authors.initials: E
authors.lastname: Hammond
authors.affiliation: Harvard University, Boston, MA.
authors.forename: Linda C
authors.initials: LC
authors.lastname: Hemphill
authors.affiliation: Rogosin Institute Weill Cornell Medical College, New York, NY.
authors.forename: Lisa C
authors.initials: LC
authors.lastname: Hudgins
authors.affiliation: The FH Foundation, South Pasadena, CA.
authors.forename: Iris
authors.initials: I
authors.lastname: Kindt
authors.affiliation: University of Kansas Medical Center, Kansas City, KS.
authors.forename: Patrick M
authors.initials: PM
authors.lastname: Moriarty
authors.affiliation: The FH Foundation, South Pasadena, CA.
authors.forename: Joyce
authors.initials: J
authors.lastname: Ross
authors.affiliation: NYU School of Medicine, New York, NY.
authors.forename: James A
authors.initials: JA
authors.lastname: Underberg
authors.affiliation: Ronald Reagan UCLA Medical Center, Los Angeles, CA.
authors.forename: Karol
authors.initials: K
authors.lastname: Watson
authors.affiliation: The FH Foundation, South Pasadena, CA.
authors.forename: Dave
authors.initials: D
authors.lastname: Pickhardt
authors.affiliation: University of Pennsylvania, Philadelphia, PA.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Rader
authors.affiliation: The FH Foundation, South Pasadena, CA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Wilemon
authors.affiliation: The FH Foundation, South Pasadena, CA; Stanford University School of Medicine, Stanford, CA.
authors.forename: Joshua W
authors.initials: JW
authors.lastname: Knowles
mesh_terms: D057286:Electronic Health Records; D005582:Foundations; D055991:Health Records, Personal; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D020407:Internet; D008137:Longitudinal Studies; D008403:Mass Screening / Q000379:methods*; D012042:Registries; D014481:United States