Key result
Blood lipid determinations at 1 year of age are highly superior to those at birth for diagnosing familial hypercholesterolemia, with mean total cholesterol of 8.38 vs 4.40 in affected vs nonaffected infants (P<.001).
Why the study?
Does lipid determination at 1 year of age improve the diagnostic accuracy of familial hypercholesterolemia compared to cord blood testing at birth in newborns with a family history?
Population
25 babies born to 21 parents with DNA-documented heterozygous familial hypercholesterolemia, a cohort of 30…
Comparison
Lipid determinations at 1 year of age vs Lipid determinations at birth (cord blood)
Design
Cohort
Follow-up
1 year
Authors
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May support 1-year over birth lipid testing for FH diagnosis in at-risk infants; leaves open prospective validation before practice change.
Cohort (n=72)
Does lipid determination at 1 year of age improve the diagnostic accuracy of familial hypercholesterolemia compared to cord blood testing at birth in newborns with a family history?
Absolute Event Rate: 8.38% vs 4.4%
p-value: p=<.001
Lipid determinations at 1 year of age are highly superior to cord blood testing at birth for the diagnosis of familial hypercholesterolemia, as lipid levels show non-overlapping ranges between affected and non-affected infants at 1 year.
Vuorio et al. (1997) conducted a cohort in Heterozygous familial hypercholesterolemia (n=72). Blood lipid determination at 1 year of age vs. Blood lipid determination at birth was evaluated on Mean serum total cholesterol at 1 year of age (p=<.001). Blood lipid determinations at 1 year of age are highly superior to those at birth for diagnosing familial hypercholesterolemia, with mean total cholesterol of 8.38 vs 4.40 in affected vs nonaffected infants (P<.001).
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