中文摘要：

目的：探讨血浆同型半胱氨酸（Homocysteine，Hcy）、高敏c反应蛋白（Hypersensitive C—reactive protein，hs-CRP）在家族性高胆固醇血症（FH）的纯合子和杂合子患者中的水平及其与临床生化指标的相关性。方法：入选在2013．10～2015．7期间在动脉硬化门诊随访、确诊的家族性高胆固醇患者34人（纯合子14例，杂合子20例）。根据FH纯合子、杂合子、健康体检者分成三组，分别测定其总胆固醇（TC）、甘油三酯（TG）、低密度脂蛋白胆固醇（LDL-C）、高密度脂蛋白胆固醇（HDL—C）、空腹血糖（Glu）、Hcy、hs—CRP水平，并比较FH患者血浆LDL-C、非高密度脂蛋白（non—HDL）水平Hey、hs-CRP水平的相关性。结果：FH组的TC、LDL．C、non．HDL、Hcy水平显著高于正常对照组（P〈0．05）。FH根据基因型亚组分析中，青少年纯合子组HDL—C[（0．78±0．21）vs（1．25±0．40）mmol／L]小于杂合子组（P〈0．001），而TC[（16．11±2．66）vs（7．30±2．54）mmol／L]、LDL-C[（14．06±2．22）vs（5．25±2．16）mmol／L]、non—HDL[（15．33±2．60）vs（6．05±2．61）mmol／L]、Hcy[（19.3±11．58）vs（11．29±3．42）μmol／L]水平显著高于杂合子组（P〈0．05）。Pearson相关性分析显示，FH患者血浆LDL-C、non—HDL水平与Hcy水平呈正相关（P〈0．05），而与hs—CRP无相关性。结论：FH患者，特别是青少年的纯合子患者，与对照组相较，具有较高的TC、LDL—C和Hcy水平，并且与血浆LDL—C、non—HDL水平呈正相关。FH患者hs-CRP的水平高于健康人，但差异无统计学意义，与血浆LDL—C、non—HDL水平也无明显相关性。

英文摘要：

Objective： To investigate the plasma homocysteine （Hcy）, high-sensitivity C-reactive protein （hs-CRP） levels in both homozygote and heterozygote patients with familial hypercholesterolemia （FH） and the correlation with serum lipid levels. Methods： Enrolled 34 FH patients （14homozygotes, 20 heterozygote） from our Atherosclerosis Department during 2013.10-2015.7. Three groups, including homozygotes, heterozygotes and healthy control, were measured total cholesterol （TC）, triglyceride （TG）, low density lipoprotein cholesterol （LDL-C）, high density lipoprotein cholesterol （HDL-C）, fasting blood glucose （Glu）, Hcy, hs-CRP levels. In addition, we investigated the correlation between LDL-C, non-high-density lipoprotein （non-HDL） levels with Hcy, hs-CRP levels in patients with FH. Results： The level ofTC, LDL-C, non-HDL and Hcy in FH group were significantly higher than the control （P 〈0.05）. According to genotype subgroup analysis, HDL-C level of adolescent homozygous group were lower than heterozygous group. But the level of TC [（16.11± 2.66） vs （7.30±2.54） mmol/L], LDL-C [（14.06± 2.22） vs （5.25±2.16） mmol/L], non-HDL [（15.33± 2.60） vs （6.05± 2.61） mmol/L] and Hey [（19.3±11.58） vs （11.29±3.42） μmol/L] were significantly higher than the heterozygous group （P 〈0. 05）. Pearson correlation analysis showed that in FH group, plasma LDL-C and non-HDL levels were positively correlated with Hcy levels （P 〈0.05）. However, plasma LDL-C and non-HDL levels were not correlated with hs-CRP in FH paients. Conclusions： FH patients,particularly homozygous adolescents have significantly higher TC, LDL-C and Hcy levels than the control group. In addition, the level of LDL-C, non-HDL levels in FH patients were positively correlated with Hey levels.