title: Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES).
abstract: BACKGROUND
  The prevalence of familial hypercholesterolemia (FH) is commonly reported as 1 in 500. European reports suggest a higher prevalence; the US FH prevalence is unknown.
  
  
  RESULTS
  The 1999 to 2012 National Health and Nutrition Examination Survey (NHANES) participants ≥20 years of age (n=36 949) were analyzed to estimate the prevalence of FH with available Dutch Lipid Clinic criteria, including low-density lipoprotein cholesterol and personal and family history of premature atherosclerotic cardiovascular disease. Prevalence and confidence intervals of probable/definite FH were calculated for the overall population and by age, sex, obesity status (body mass index ≥30 kg/m(2)), and race/ethnicity. Results were extrapolated to the 210 million US adults ≥20 years of age. The estimated overall US prevalence of probable/definite FH was 0.40% (95% confidence interval, 0.32-0.48) or 1 in 250 (95% confidence interval, 1 in 311 to 209), suggesting that 834 500 US adults have FH. Prevalence varied by age, being least common in 20 to 29 year olds (0.06%, 1 in 1557) and most common in 60 to 69 year olds (0.85%, 1 in 118). FH prevalence was similar in men and women (0.40%, 1 in 250) but varied by race/ethnicity (whites: 0.40%, 1 in 249; blacks: 0.47%, 1 in 211; Mexican Americans: 0.24%, 1 in 414; other races: 0.29%, 1 in 343). More obese participants qualified as probable/definite FH (0.58%, 1 in 172) than nonobese (0.31%, 1 in 325).
  
  
  CONCLUSIONS
  FH, defined with Dutch Lipid Clinic criteria available in NHANES, affects 1 in 250 US adults. Variations in prevalence by age and obesity status suggest that clinical criteria may not be sufficient to estimate FH prevalence.
authors.affiliation: From Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F., M.M.M.); Institute for Clinical Research and Health Policy Studies (A.M.R., L.K.L., R.C.S.) and Division of Clinical Decision Making (J.B.W.), Tufts Medical Center, Boston, MA; and Boston University School of Medicine, MA (M.M.M.). Sarah.deferranti@cardio.chboston.org.
authors.forename: Sarah D
authors.initials: SD
authors.lastname: de Ferranti
authors.affiliation: From Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F., M.M.M.); Institute for Clinical Research and Health Policy Studies (A.M.R., L.K.L., R.C.S.) and Division of Clinical Decision Making (J.B.W.), Tufts Medical Center, Boston, MA; and Boston University School of Medicine, MA (M.M.M.).
authors.forename: Angie Mae
authors.initials: AM
authors.lastname: Rodday
authors.affiliation: From Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F., M.M.M.); Institute for Clinical Research and Health Policy Studies (A.M.R., L.K.L., R.C.S.) and Division of Clinical Decision Making (J.B.W.), Tufts Medical Center, Boston, MA; and Boston University School of Medicine, MA (M.M.M.).
authors.forename: Michael M
authors.initials: MM
authors.lastname: Mendelson
authors.affiliation: From Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F., M.M.M.); Institute for Clinical Research and Health Policy Studies (A.M.R., L.K.L., R.C.S.) and Division of Clinical Decision Making (J.B.W.), Tufts Medical Center, Boston, MA; and Boston University School of Medicine, MA (M.M.M.).
authors.forename: John B
authors.initials: JB
authors.lastname: Wong
authors.affiliation: From Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F., M.M.M.); Institute for Clinical Research and Health Policy Studies (A.M.R., L.K.L., R.C.S.) and Division of Clinical Decision Making (J.B.W.), Tufts Medical Center, Boston, MA; and Boston University School of Medicine, MA (M.M.M.).
authors.forename: Laurel K
authors.initials: LK
authors.lastname: Leslie
authors.affiliation: From Department of Cardiology, Boston Children's Hospital, MA (S.D.d.F., M.M.M.); Institute for Clinical Research and Health Policy Studies (A.M.R., L.K.L., R.C.S.) and Division of Clinical Decision Making (J.B.W.), Tufts Medical Center, Boston, MA; and Boston University School of Medicine, MA (M.M.M.).
authors.forename: R Christopher
authors.initials: RC
authors.lastname: Sheldrick
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D015992:Body Mass Index; D002648:Child; D015897:Comorbidity; D005006:Ethnicity / Q000706:statistics & numerical data; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000453:epidemiology*; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D009749:Nutrition Surveys; D009765:Obesity / Q000453:epidemiology; D015995:Prevalence; D012737:Sex Factors; D014481:United States / Q000453:epidemiology; D055815:Young Adult
chemical_list: D008055:Lipids
keywords: cholesterol; epidemiology; hyperlipoproteinemia, type II; risk factors