As many as 20% of the survivors of acute myocardial infarction present
with the heritable form of hyperlipidemia, termed familial combined h
yperlipidemia (FCHL). Some of the genes reported to be involved in thi
s disorder, such as those for lipoprotein lipase (LPL) and apolipoprot
ein (ape) C-III, are controlled by a peroxisome proliferator-activated
receptor (PPAR)/retinoic acid receptor X (RXR) regulatory system, whi
ch is retinoic acid dependent. If, as we hypothesized, the availabilit
y of retinoic acid or its precursor retinol (vitamin A) could be alter
ed in FCHL, this could help explain some aspects of the phenotypic exp
ression of the disease. We therefore measured plasma retinol concentra
tions in 30 FCHL subjects and 56 controls. Plasma retinol concentratio
ns in FCHL subjects were significantly lower than that of control subj
ects (1.96 +/- 0.83 mu mol/L vs 2.91 +/- 1.23 mu mol/L, respectively;
P <0.0001). This novel finding of significantly decreased concentratio
ns of plasma retinol in FCHL relative to control subjects gives suppor
t to the hypothesis that vitamin A might be involved in the expression
of this disorder.