Gestational hypercholesterolemia helps detect familial hypercholesterolemia and prevent late pregnancy complications

Abstract

Introduction: In this retrospective study, we comment on the cause and diagnostic potential of the elevated serum total cholesterol and some non-cholesterol sterols in a population of healthy pregnant women from Prague, Czech Republic. Methods: Based on a total of 21,000 clinical biochemistry tests of healthy pregnant women with hypercholesterolemia observed during pregnancy, a testing group of 84 women with a total cholesterol (TC) above 7.0 mmol/l was established to analyze their non-cholesterol sterols (NCS) by Gas Chromatography-Mass Spectrometry. Lathosterol (Lat) and desmosterol (Des) were evaluated as markers of endogenous cholesterol synthesis, whereas campesterol (Cam) and sitosterol (Sit) were analysed as markers of intestinal absorption. Results: In the basic population, the frequency of gestational hypercholesterolemia with the serum TC levels > 7.0mmol/l was 1 to 136.The mean values were: TC 6.8 mmol/l, LDL-C 4.6 mmol/l, and HDL-C 2.2 mmol/l. In the selected testing group of 84, the mean values were: Lat 7.8+/-1.7 μmol/l, Des 4.7+/-0.9 μmol/l, Cam 9.8+/-2.6 μmol/l, and Sit 9.6+/-3.8 μmol/l. Lat correlated with TC (r = 0.53), LDL-C (r = 0.36), and non-HDL-C (r = 0.35). No such correlations were observed for Cam or Sit. Conclusion: Our fi ndings prove that gestational hypercholesterolemia is caused by increased endogenous cholesterol synthesis via lathosterol. Subsequently, we demonstrate how a single cholesterol test taken in the fi fth to sixth month gestation can effi ciently help detect familial hypercholesterolemia, and prevent related late pregnancy circulatory complications.

Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia

“…In pregnant women unaffected by FH, due to the effects of estrogen and progesterone on lipoprotein metabolism, TC normally goes up by 30–40%, together with a rise in LDL-C and HDL-C fraction in the third trimester. The relative increase in TC during pregnancy is the same in healthy women as in FH; however, in the latter case TC easily reaches levels of up to 8–9 mmol/L (309–348 mg/dL) [ 126 ].…”