title: Reducing the burden of disease and death from familial hypercholesterolemia: a call to action.
abstract: Familial hypercholesterolemia (FH) is a genetic disease characterized by substantial elevations of low-density lipoprotein cholesterol, unrelated to diet or lifestyle. Untreated FH patients have 20 times the risk of developing coronary artery disease, compared with the general population. Estimates indicate that as many as 1 in 500 people of all ethnicities and 1 in 250 people of Northern European descent may have FH; nevertheless, the condition remains largely undiagnosed. In the United States alone, perhaps as little as 1% of FH patients have been diagnosed. Consequently, there are potentially millions of children and adults worldwide who are unaware that they have a life-threatening condition. In countries like the Netherlands, the United Kingdom, and Spain, cascade screening programs have led to dramatic improvements in FH case identification. Given that there are currently no systematic approaches in the United States to identify FH patients or affected relatives, the patient-centric nonprofit FH Foundation convened a national FH Summit in 2013, where participants issued a "call to action" to health care providers, professional organizations, public health programs, patient advocacy groups, and FH experts, in order to bring greater attention to this potentially deadly, but (with proper diagnosis) eminently treatable, condition.
authors.affiliation: Stanford University School of Medicine and Cardiovascular Institute, Stanford, CA; The FH Foundation, South Pasadena, CA.
authors.forename: Joshua W
authors.initials: JW
authors.lastname: Knowles
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: The FH Foundation, South Pasadena, CA.
authors.forename: Karen
authors.initials: K
authors.lastname: Greendale
authors.affiliation: The FH Foundation, South Pasadena, CA.
authors.forename: Katherine
authors.initials: K
authors.lastname: Wilemon
authors.affiliation: McGill University, Montreal, Canada.
authors.forename: Jacques
authors.initials: J
authors.lastname: Genest
authors.affiliation: Emory University School of Medicine, Atlanta, GA.
authors.forename: Laurence S
authors.initials: LS
authors.lastname: Sperling
authors.affiliation: West Virginia University, Morgantown, WV.
authors.forename: William A
authors.initials: WA
authors.lastname: Neal
authors.affiliation: University of Pennsylvania, Philadelphia, PA.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Rader
authors.affiliation: Office of Public Health Genomics, Centers for Disease Control & Prevention, Atlanta, GA.
authors.forename: Muin J
authors.initials: MJ
authors.lastname: Khoury
mesh_terms: D003324:Coronary Artery Disease / Q000209:etiology / Q000517:prevention & control; D057210:Delayed Diagnosis / Q000517:prevention & control; D005060:Europe / Q000453:epidemiology; D014943:Global Health; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology; D008403:Mass Screening / Q000458:organization & administration*; D014481:United States / Q000453:epidemiology