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Updated: Jul 30, 2025
Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies
Published on: January 28, 2014
Familial Hypercholesterolemia Biomarker Distribution in Dried Blood Spots
Patrice K Held1, Michael Lasarev2, Xiao Zhang3
1Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR; Oregon State Public Health Laboratory, Oregon Health Authority, Hillsboro, OR.
Insights
Low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB) show promise for newborn screening of familial hypercholesterolemia. These biomarkers, unlike total cholesterol (TC), exhibit distributions suitable for identifying at-risk infants.
Area of Science:
- Neonatal screening
- Biomarker analysis
- Cardiovascular health
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder leading to high cholesterol levels.
- Early detection of FH in newborns is crucial for preventing cardiovascular disease.
- Current newborn screening methods for FH are limited.
Purpose of the Study:
- To assess the distribution profiles of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and apolipoprotein B (apoB) in newborns.
- To evaluate these biomarkers as potential indicators for neonatal familial hypercholesterolemia screening.
- To consider confounding factors like gestational age, birth weight, sex, and race.
Main Methods:
- Analysis of 10,000 deidentified newborn dried blood spot cards.
- Measurement of TC, LDL-C, and apoB concentrations.
- Reporting concentrations as multiples of the median, focusing on 99th percentile values stratified by birth weight, gestational age, sex, and race.
- Exploration of seasonal biomarker variations.
Main Results:
- LDL-C and apoB distributions showed extreme elevations, indicating potential for screening.
- TC distribution was less elevated with a smaller range.
- Early gestational age and low birth weight were associated with higher 99th percentile apoB levels.
- Sex and race had minimal impact on biomarker concentrations.
- Biomarker levels were highest in winter compared to summer.
Conclusions:
- LDL-C and apoB exhibit distribution characteristics supportive of their use in neonatal FH screening.
- Further research is required to validate these biomarkers through correlation with molecular testing and later childhood cholesterol levels.
Objective:
To evaluate distribution profiles of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and apolipoprotein B (apoB) as candidate markers of familial hypercholesterolemia in newborns, taking into consideration potential confounding factors, such as gestational age, birth weight, sex, and race.
Study Design:
TC, LDL-C, and apoB were measured from 10 000 residual deidentified newborn dried blood spot cards. Concentrations for each biomarker were reported as multiples of the median, with emphasis on describing the 99th percentile values based on birth weight, gestational age, sex, and race. Seasonal variation of biomarkers was also explored.
Results:
LDL-C and apoB had distribution curves with tails showing extreme elevation, whereas the distribution of TC was less elevated and had the smallest range. Neonates born at early gestational age and low birth weight had significantly greater 99th percentile of multiples of the median values for apoB but not TC or LDL-C. Differences in biomarker concentration based on sex and race were minimal. All biomarkers showed greatest concentrations in the winter as compared with summer months.
Conclusions:
LDL-C and apoB had distribution curves supporting candidacy for neonatal familial hypercholesterolemia screening. Future studies are needed to correlate newborn screening results with molecular testing to validate these 2 biomarkers, along with measured cholesterol levels later in childhood.
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