US Prevalence of Familial Hypercholesterolemia

Study Questions:

What is the prevalence of familial hypercholesterolemia (FH) in the United States?


Data from the National Health and Nutrition Examination Survey (NHANES), 1999-2012, were used for the present analysis. Adults ≥20 years of age who provided blood samples from which lipid profiles were measured were included. The Dutch Lipid Clinic criteria were used to estimate the prevalence of FH. These criteria include points for low-density lipoprotein (LDL) >330 mg/dl (8 points) down to 1 point for LDL between 155 and 189 mg/dl. Points were also given for a known gene defect causative for FH (8 points), personal history of early atherosclerotic cardiovascular disease (ASCVD) (2 points), family history of early ASCVD or high cholesterol (LDL cholesterol >95th percentile for age, sex, and country) in a first-degree relative (1 point each), and personal and physical examination findings of xanthoma (6 points) and arcus cornea (4 points) at a young age. Definite FH was defined as 8 or more points, and probable FH as 6-8 points. A Dutch Lipid Clinic criterion that was not collected in NHANES (including genetic testing, family history of hypercholesterolemia, or personal history of peripheral arterial disease) was not considered in this analysis.


A total of 36,949 were included in the analysis. Results were extrapolated to the 210 million US adults ≥20 years of age. The US prevalence of probable/definite FH was estimated to be 0.40% (95% confidence interval [CI], 0.32-0.48) or 1 in 250 (95% CI, 1 in 311 to 209). This suggests that 834,500 US adults have FH. Prevalence varied by age, being least common in 20- to 29-year-olds (0.06%, 1 in 1,557) 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).


The investigators concluded that 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.


These data suggest a higher prevalence of FH than previously observed. In addition, prevalence appears to increase with age and obesity, suggesting that environment and lifestyle may influence the lipids. Given the number of effective therapies for lipid lowering, identification of FH patients early in adulthood may lower risk by early initiation of treatment including lifestyle modification.

Clinical Topics: Diabetes and Cardiometabolic Disease, Dyslipidemia, Prevention, Homozygous Familial Hypercholesterolemia, Lipid Metabolism, Nonstatins, Primary Hyperlipidemia

Keywords: Arcus Senilis, Atherosclerosis, Cholesterol, Cholesterol, LDL, Dyslipidemias, Hypercholesterolemia, Hyperlipoproteinemia Type II, Life Style, Lipids, Lipoproteins, LDL, Obesity, Primary Prevention, Xanthomatosis

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