Jackuliaková D, Vaverková H, Karásek D
III. interní klinika Lékarské fakulty UP a FN Olomouc.
Vnitr Lek. 2008 Nov;54(11):1045-53.
Familial combined hyperlipidemia is the most frequent hereditary dyslipidemia, usually associated with insulin resistance. Recently, the diagnostic criteria offamilial combined hyperlipidemia were redefined: There should be at least two 1st degree hyperlipidemic relatives with both triglycerides > or = 1.5 mmol x L(-1) and apolipoprotein B > or = 1.20 g L(-1). The aim of this study was to evaluate the relationship between this lipoprotein phenotype and the presence of insulin resistance and to assess the presence of metabolic syndrome.
Lipid parameters and parameters associated with insulin resistance were determined in 90 subjects of families with familial combined hyperlipidemia and 38 controls. The members of affected families were further divided into the hyperlipidemic and normolipidemic group.
The hyperlipidemic group showed only significantly higher fasting proinsulin levels [HL 17,4 +/- 1.5 vs NL 12.8 +/- 1.4 (p = 0.030); and vs CO 11.1 +/- 1.4 (p = 0.003)] in comparison with the normolipidemic and control groups. Differences in fasting insulin [HL 9.40 +/- 0.78 vs NL 7.78 +/- 0.71 (p = NS); and vs CO 7.30 +/- 0.76 (p = NS)], C-peptide [HL 2.56 +/- 0.19 vs NL 2.27 +/- 0.17 (p = NS); and vs CO 2.07 +/- 0.18 (p = NS)], and HOMA [HL 2.16 +/- 0.21 vs NL 1.84 +/- 0.20 (p = NS); and vs CO 1.69 +/- 0.21 (p = NS)] did not reach statistical significance. On the contrary, the members of families with familial combined hyperlipidemia with the presence of metabolic syndrome (NCEP-ATP III) had significantly higher fasting insulin [FCH with MS 12.74 +/- 1.42 vs HL without MS 9.21 +/- 0.92 (p = 0.030); and vs NL without MS 6.75 +/- 0.80 (p = 0.001)], and proinsulin levels [FCH with MS 25.28 vs HL without MS 15.69 +/- 1.75 (p = 0.002); and vs NL without MS 11.20 +/- 1.51 (p = 0.0001)], and HOMA index [FCH with MS 3.03 +/- 0.39 vs HL without MS 2.13 +/- 0.25 (p = 0.042); and vs. NL without MS 1.56 +/- 0.22 (p = 0.003)] in comparison with their relatives without metabolic syndrome and controls.
The presence of the metabolic syndrome could detect the most insulin resistant subjects in families with familial combined hyperlipidemia who are at increased risk of cardiovascular disease.
家族性混合性高脂血症是最常见的遗传性血脂异常，通常与胰岛素抵抗相关。最近，家族性混合性高脂血症的诊断标准被重新定义：应有至少两名一级高脂血症亲属，其甘油三酯≥1.5 mmol/L且载脂蛋白B≥1.20 g/L。本研究的目的是评估这种脂蛋白表型与胰岛素抵抗的关系，并评估代谢综合征的存在情况。
对90名家族性混合性高脂血症家族的受试者和38名对照者测定了血脂参数及与胰岛素抵抗相关的参数。受影响家族的成员进一步分为高脂血症组和正常血脂组。
与正常血脂组和对照组相比，高脂血症组仅空腹胰岛素原水平显著更高[高脂血症组17.4±1.5 vs正常血脂组12.8±1.4（p = 0.030）；与对照组11.1±1.4相比（p = 0.003）]。空腹胰岛素[高脂血症组9.40±0.78 vs正常血脂组7.78±0.71（p =无显著性差异）；与对照组7.30±0.76相比（p =无显著性差异）]、C肽[高脂血症组2.56±0.19 vs正常血脂组2.27±0.17（p =无显著性差异）；与对照组2.07±0.18相比（p =无显著性差异）]和HOMA[高脂血症组2.16±0.21 vs正常血脂组1.84±0.20（p =无显著性差异）；与对照组1.69±0.21相比（p =无显著性差异）]的差异未达到统计学显著性。相反，患有代谢综合征（NCEP-ATP III）的家族性混合性高脂血症家族成员空腹胰岛素[伴有代谢综合征的家族性混合性高脂血症12.74±1.42 vs不伴有代谢综合征的高脂血症组9.21±0.92（p = 0.030）；与不伴有代谢综合征的正常血脂组6.75±0.80相比（p = 0.001）]、胰岛素原水平[伴有代谢综合征的家族性混合性高脂血症25.28 vs不伴有代谢综合征的高脂血症组15.69±1.75（p = 0.002）；与不伴有代谢综合征的正常血脂组11. .20±1.51相比（p = 0.0001）]和HOMA指数[伴有代谢综合征的家族性混合性高脂血症3.03±0.39 vs不伴有代谢综合征的高脂血症组2.13±0.25（p = 0.042）；与不伴有代谢综合征的正常血脂组1.56±0.22相比（p = 0.003）]显著高于其无代谢综合征的亲属和对照组。
代谢综合征的存在可识别家族性混合性高脂血症家族中胰岛素抵抗最强的受试者，这些受试者心血管疾病风险增加。
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