家族性高胆固醇血症诊断率低,出现黄色脂肪瘤须警惕

2017-06-01 屠俊 澎湃新闻

近日,据台湾媒体报道,台北市一名28岁女性,血中胆固醇数值高达一般人的七八倍,心脏血管、冠状动脉到处都塞住,尽管接受了多次的扩张术、放过支架,血管依旧狭窄阻塞,开完刀不久就因心律不整过世,只因罹患家族性高胆固醇血症(FH)。高胆固醇血症(FH)是一种罕见的常染色体显性遗传性疾病,有家族性的特征,主要病因为基因突变,涉及的基因主要有LDL受体基因、ApoB基因以及PCSK9基因突变,其主要临床表现为

近日,据台湾媒体报道,台北市一名28岁女性,血中胆固醇数值高达一般人的七八倍,心脏血管、冠状动脉到处都塞住,尽管接受了多次的扩张术、放过支架,血管依旧狭窄阻塞,开完刀不久就因心律不整过世,只因罹患家族性高胆固醇血症(FH)。

高胆固醇血症(FH)是一种罕见的常染色体显性遗传性疾病,有家族性的特征,主要病因为基因突变,涉及的基因主要有LDL受体基因、ApoB基因以及PCSK9基因突变,其主要临床表现为血清低密度脂蛋白胆固醇(LDL-C)水平显着升高、早发动脉粥样硬化性心血管疾病(ASCVD)相关的临床表现和皮肤/肌腱黄色瘤。

沈阳军区总医院韩雅玲院士指出,家族性高胆固醇血症(FH)作为一种遗传性疾病,对于患者和患者的家庭都会带来沉重的负担。相对于一般民众,患者罹患早发性心血管疾病的风险足足高了20倍以上。

如果未及时进行干预和治疗,FH杂合子患者的早发冠心病风险将显着高于正常人,纯合子患者甚至可在20~30岁死亡。

中国目前尚缺乏全国性流行病学资料,根据全球的资料显示,纯合子型FH患者的发病率在1/16万-30万,杂合子型FH约为1/500,目前全球FH的诊断率依然低下,而中国FH患者的检出率也不容乐观。

全世界范围内,FH患者处于诊断率低、治疗不足的状态。为了促进我国家族性高胆固醇血症的早期诊断和治疗,规范家族性高胆固醇血症的临床管理,家族性高胆固醇血症门诊筛查项目于2016年5月28日举行启动仪式,实施开展。

而在近日举行的十一届东方心脏病学会上,记者获悉,“中国家族性高胆固醇血症卓越中心”正式授牌,广东省人民医院、沈阳军区总医院、复旦大学附属中山医院、首都医科大学附属北京安贞医院、北京大学第一医院、南京鼓楼医院六家医院被授牌。

专家提醒,家族性高胆固醇血症患者常在手肘、膝盖与脚跟出现黄色的脂肪瘤,眼睛的角膜周围出现白环或上下眼睑出现黄色脂肪瘤,家长若发现就该有警觉,一般而言,只要年满8岁就要用药治疗;成人健检时若出现血中胆固醇异常偏高,且家族成员也有相同情况时,也得留心。

韩雅玲院士指出,随着诊断技术的不断发展,国际逐渐重视FH的诊疗,已经或者正在启动FH患者登记管理系统。国际上一些组织或机构陆续发布了共识或指南,然而我国尚未重视FH的诊疗。去年的5月28日,中国心血管健康联盟发起了FH门诊筛查项目,填补了我国在FH诊疗领域的空白。

北京大学人民医院党委书记陈红教授提出,在各位专家的努力下,共识的制定已取得阶段性成果,对家族性高胆固醇血症的诊断和治疗提供了规范化的模式。

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    2017-06-03 wetgdt
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    2017-06-02 139****5926

    好好文章学习了

    0

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    2017-06-02 lou.minghong

    学习

    0

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    2017-06-01 changjiu

    需重视,谢谢

    0

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    2017-06-01 139****5926

    好文章学习了

    0

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