Abstract

BackgroundIn Down syndrome patients several metabolic abnormalities have been reported, some involving the lipid metabolism. The level of LDL in plasma is the major determinant of the risk of vascular disease. There appear to be no studies on the LDL receptor in Down syndrome patients.MethodsFlow cytometric methods for measuring the LDL receptor in peripheral blood mononuclear cells (PBMC) can identify patients with hypercholesterolemia. We applied this method in 19 old patients with Down syndrome and 23 healthy controls.ResultsDown syndrome patients had high levels of triglycerides and low levels of HDL, and high levels of CRP. We also found a down-regulation of LDL receptor expression.ConclusionsDown syndrome patients show no increase in the frequency of cardiovascular disease. The low incidence in cardiovascular disease despite the low level of HDL, high levels of CRP and reduction of LDL receptor expression lead to the conclusion that either these are not risk factors in these patients or that other risks factors – not yet identified – are considerably lower.

Highlights

  • Several studies have discussed the psychological and intellectual problems, immunological deficiencies, and early aging of Down syndrome (DS) patients

  • Since the progression of atherosclerosis is age-dependent, lowdensity lipoprotein (LDL) receptor interactions are important in lipid plaque formation and T cells are present in early atherosclerotic lesions, interacting with LDL through the LDL receptor [11], we studied LDL expression on T lymphocytes in a group of old patients with DS

  • DS total cholesterol and LDL did not differ from controls (p = 0.8 and p = 0.9 respectively)

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Summary

Introduction

Several studies have discussed the psychological and intellectual problems, immunological deficiencies, and early aging of Down syndrome (DS) patients. Several metabolic abnormalities have been reported, some involving the lipid metabolism [1]. It must be concluded that the low prevalence of coronary artery disease in individuals with DS cannot be explained by their cholesterol fractions. Mortality statistics of these patients showed practically no deaths due to advanced atherosclerosis [2], and pathological studies have detected no increase in atherosclerosis – or even a complete absence of atherosclerotic changes [3]. In Down syndrome patients several metabolic abnormalities have been reported, some involving the lipid metabolism. There appear to be no studies on the LDL receptor in Down syndrome patients

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