title: Genotype-guided diagnosis in familial hypercholesterolemia: population burden and cascade screening.
abstract: OBJECTIVE
  In this review, how genetic testing has provided major new insights regarding the population burden of familial hypercholesterolemia (FH) are reviewed. In addition, the role of genetic testing in cascade screening for FH and an updated MEDPED (Make Early Diagnoses to Prevent Early Death in MEDical PEDigrees) algorithm for the clinical diagnosis of FH are presented.
  
  
  RESULTS
  For the first time, recent application of genetic testing for FH in large populations has provided firm estimates of the prevalence of FH (at least one in 220) in the USA. High associated risks of coronary artery disease make FH the most common genetic cause of premature coronary artery disease.
  
  
  CONCLUSIONS
  Genetic testing has yielded accurate, new estimates of the population burden of FH. The potential benefits of early diagnosis of FH on a population-wide level have not yet begun to be realized.
authors.affiliation: Cardiovascular Genetics Research Program, Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors.forename: Paul N
authors.initials: PN
authors.lastname: Hopkins
mesh_terms: D042241:Early Diagnosis; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008403:Mass Screening / Q000379:methods*; D009154:Mutation; D015995:Prevalence