Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)
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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. Methods and 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.
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Extrapolations from available data estimate HeFH frequency at between 1 in 200 and 1 in 250, corresponding to 14 to 34 million cases worldwide.
“Based on extrapolations from available data, the frequency of HeFH can be estimated to be between 1/200 and 1/250, putting the total number of cases at between 14 and 34 million worldwide. 121,298”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [298]
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Cites
Friedewald, W. T., Levy, R. I., & Fredrickson, D. S. (1972) · Clinical Chemistry · doi:10.1093/clinchem/18.6.499 · Cited by 32,423 · see citing works
Cholesterol Treatment Trialists' (CTT) Collaboration (2010) · The Lancet · doi:10.1016/s0140-6736(10)61350-5 · Cited by 6,550 · see citing works
How Many Imputations are Really Needed? Some Practical Clarifications of Multiple Imputation Theory
Graham, J. W., Olchowski, A. E., & Gilreath, T. D. (2007) · Prevention Science · doi:10.1007/s11121-007-0070-9 · Cited by 2,795 · cited 4× · see citing works
“Further investigation into the prevalence of FH, including diverse and pediatric populations and the use of genotype along with phenotype, will improve our understanding of the national burden of FH, an important cause of ASCVD.”
BackgroundInfluentialNordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., Wiklund, O., Hegele, R. A., Raal, F. J., Defesche, J. C., et al. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht273 · Cited by 2,761 · see citing works
Kavey, R., Simons-Morton, D., & de Jesus, J. D. (2011) · Pediatrics · doi:10.1542/peds.2009-2107c · Cited by 2,131 · see citing works
National health and nutrition examination survey: analytic guidelines, 1999-2010.
Cl, J., Paulose‐Ram, R., Ogden, C. L., Carroll, Kruszon‐Moran, D., Dohrmann, S. M., & Curtin, L. R. (2013) · PubMed · Cited by 1,522 · see citing works
Goldstein, J. L., Schrott, H. G., Hazzard, W. R., Bierman, E. L., & Motulsky, A. G. (1973) · Journal of Clinical Investigation · doi:10.1172/jci107332 · Cited by 1,444 · see citing works
Efficacy of statins in familial hypercholesterolaemia: a long term cohort study
Versmissen, J., Oosterveer, D. M., Yazdanpanah, M., Defesche, J. C., Basart, D. C. G., Liem, A. H., Heeringa, J., Witteman, J. C. M., Lansberg, P. J., Kastelein, J. J. P., et al. (2008) · BMJ · doi:10.1136/bmj.a2423 · Cited by 719 · see citing works
Benn, M., Watts, G. F., Tybjaerg-Hansen, A., & Nordestgaard, B. G. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1563 · Cited by 632 · see citing works
Williams, R. R., Hunt, S. C., Schumacher, M. C., Hegele, R. A., Leppert, M. F., Ludwig, E. H., & Hopkins, P. N. (1993) · The American Journal of Cardiology · doi:10.1016/0002-9149(93)90155-6 · Cited by 566 · see citing works
Neil, A., Cooper, J., Betteridge, J., Capps, N., McDowell, I., Durrington, P., Seed, M., Humphries, S. E., & on behalf of the Simon Broome Familial Hyperlipidaemia Register Group (2008) · European Heart Journal · doi:10.1093/eurheartj/ehn422 · Cited by 425 · cited 1× · see citing works
“Untreated FH is associated with a ~90-fold increase in atherosclerotic cardiovascular disease (ASCVD) mortality in young adults.(1) Using statins (HMGCoA reductase inhibitors) early in life can substantially reduce ASCVD in FH.”
BackgroundFamilial Hypercholesterolemia and Coronary Heart Disease: A HuGE Association Review
Austin, M. A. (2004) · American Journal of Epidemiology · doi:10.1093/aje/kwh237 · Cited by 355 · see citing works
Trends in Lipids and Lipoproteins in US Adults, 1988-2010
Carroll, M. D., Kit, B. K., Lacher, D. A., Shero, S. T., & Mussolino, M. E. (2012) · JAMA · doi:10.1001/jama.2012.13260 · Cited by 282 · see citing works
Edwards, J. E., & Moore, R. A. (2003) · BMC Family Practice · doi:10.1186/1471-2296-4-18 · Cited by 166 · see citing works
Shi, Z., Yuan, B., Zhao, D. H., Taylor, A. W., Lin, J., & Watts, G. F. (2014) · International Journal of Cardiology · doi:10.1016/j.ijcard.2014.04.165 · Cited by 103 · see citing works
Prevalence and treatment of familial hypercholesterolaemia in Australian communities
Watts, G. F., Shaw, J. E., Pang, J., Magliano, D. J., Jennings, G., & Carrington, M. J. (2015) · International Journal of Cardiology · doi:10.1016/j.ijcard.2015.03.027 · Cited by 75 · see citing works
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Heart Disease and Stroke Statistics—2020 Update: A Report From the American Heart Association
Virani, S. S., Alonso, A., Benjamin, E. J., Bittencourt, M. S., Callaway, C. W., Carson, A. P., Chamberlain, A. M., Chang, A. R., Cheng, S., Delling, F. N., et al. (2020) · Circulation · doi:10.1161/cir.0000000000000757 · Cited by 9,175 · see citing works
Heart Disease and Stroke Statistics—2023 Update: A Report From the American Heart Association
Tsao, C. W., Aday, A. W., Almarzooq, Z. I., Anderson, C. A. M., Arora, P., Avery, C. L., Baker-Smith, C. M., Beaton, A. Z., Boehme, A. K., Buxton, A. E., et al. (2023) · Circulation · doi:10.1161/cir.0000000000001123 · Cited by 8,300 · see citing works
Heart Disease and Stroke Statistics—2022 Update: A Report From the American Heart Association
Tsao, C. W., Aday, A. W., Almarzooq, Z. I., Alonso, A., Beaton, A. Z., Bittencourt, M. S., Boehme, A. K., Buxton, A. E., Carson, A. P., Commodore-Mensah, Y., et al. (2022) · Circulation · doi:10.1161/cir.0000000000001052 · Cited by 5,987 · see citing works
Mach, F., Baigent, C., Catapano, A. L., Koskinas, K. C., Casula, M., Badimon, L., Chapman, M. J., De Backer, G. G., Delgado, V., Ference, B. A., et al. (2019) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2019.08.014 · Cited by 4,854 · see citing works
2016 ESC/EAS Guidelines for the Management of Dyslipidaemias
Catapano, A. L., Graham, I., De Backer, G., Wiklund, O., Chapman, M. J., Drexel, H., Hoes, A. W., Jennings, C. S., Landmesser, U., Pedersen, T. R., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw272 · Cited by 3,162 · see citing works
2016 ESC/EAS Guidelines for the Management of Dyslipidaemias
Catapano, A. L., Graham, I., De Backer, G., Wiklund, O., Chapman, M. J., Drexel, H., Hoes, A. W., Jennings, C. S., Landmesser, U., Pedersen, T. R., et al. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.08.018 · Cited by 1,582 · see citing works
2026 ACC/AHA/AACVPR/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Dyslipidemia
Blumenthal, R. S., Morris, P. B., Gaudino, M., Johnson, H. M., Anderson, T. S., Bittner, V. A., Blankstein, R., Brewer, L. C., Cho, L., de Ferranti, S. D., et al. (2026) · JACC · doi:10.1016/j.jacc.2025.11.016 · Cited by 304 · see citing works
Self-citationVallejo-Vaz, A. J., Robertson, M., Catapano, A. L., Watts, G. F., Kastelein, J. J., Packard, C. J., Ford, I., & Ray, K. K. (2017) · Circulation · doi:10.1161/circulationaha.117.027966 · Cited by 185 · see citing works
Writing Committee Members, Blumenthal, R. S., Morris, P. B., Gaudino, M., Johnson, H. M., Anderson, T. S., Bittner, V. A., Blankstein, R., Brewer, L. C., Cho, L., et al. (2026) · Circulation · doi:10.1161/cir.0000000000001423 · Cited by 122 · see citing works
Peripheral Artery Disease and African Americans: Review of the Literature
Solaru, K. W. (2019) · Current Cardiovascular Risk Reports · doi:10.1007/s12170-019-0621-1 · Cited by 6 · see citing works
- Authors
- de Ferranti, S. D., Rodday, A. M., Mendelson, M. M., Wong, J. B., Leslie, L. K., & Sheldrick, R. C.
- Affiliations
- 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.).
- Boston University (US)
- Venue
- Circulation
- Published
- 2016-03-15
- Volume
- 133
- Issue
- 11
- Pages
- 1067-1072
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2302032525
- Cited by
- 380
- References
- 18
- Citations by year
- 2026: 20 · 2025: 19 · 2024: 25 · 2023: 36 · 2022: 32 · 2021: 42 · 2020: 48 · 2019: 42 · 2018: 36 · 2017: 44 · 2016: 36
- FWCI
- 58.26
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- familial hypercholesterolemia, prevalence, LDL cholesterol, premature atherosclerotic cardiovascular disease, obesity, racial and ethnic differences, age differences, United States adults, NHANES, underdiagnosis, hypercholesterolemia screening, family history of cardiovascular disease, sex differences, body mass index, cardiovascular risk stratification
- MeSH terms
- Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Child, Ethnicity, Female, Humans, Hyperlipoproteinemia Type II, Lipids, Male, Middle Aged, Nutrition Surveys, Obesity, Sex Factors, United States, Comorbidity, Body Mass Index, Prevalence, Young Adult
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