Kids' lipid levels clue to inherited high cholesterol
28 March 2003
Children of parents with familial hypercholesterolaemia (FH) need not rely on a genetic diagnosis to see whether they are affected, say Dutch researchers.
(Familial hypercholesterolaemia is a condition that is inherited within families and results in extremely high blood levels of cholesterol, which often leads to potentially fatal heart disease in early adulthood; treatment is as for other forms of high cholesterol, but is more rigorous.)
Measuring low-density lipoprotein cholesterol (LDL-C, so-called 'bad' cholesterol), high-density lipoprotein cholesterol (HDL-C, so-called 'good' cholesterol) and lipoprotein A (a protein and lipid complex present in the blood) can accurately diagnose FH in childhood and leads to identification of families at highest risk of cardiovascular disease, they said.
'A defect in the LDL receptor gene [as detected by genetic diagnosis] is more accurate for the diagnosis of FH than an LDL-C measurement, but DNA sequencing is only available to a limited number of doctors,' the researchers wrote (Circulation 2003; 107: 1473-78).
'Our data support the use of an LDL-C cut-off [measurement for the diagnosis of FH in offspring] at minimal loss of specificity and sensitivity.'
The researchers stressed, however, that their results only applied to families where FH had already been diagnosed and could not be generalised to other lipid disorders or to the general population.
Lipid levels in more than 1000 children from FH families were analysed as part of the study.
LDL-C levels greater than 3.5 mmol/L had a 98 per cent chance of predicting the presence of an LDL receptor mutation (which occurs in FH).
Increased LDL-C (greater than 6.23 mmol/L) and lipoprotein A (greater than 300 mg/L), and decreased HDL-C (less than 1.0 mmol/L) identified families with the highest risk of premature cardiovascular disease.
Last Reviewed: 31 March 2003
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