Guidance for Pediatric Familial Hypercholesterolemia 2017.
Guidance for Pediatric Familial Hypercholesterolemia 2017.
复制标题
DOI：
10.5551/jat.cr002
复制
发表时间：
2018-06-01
影响因子：
4.4
通讯作者：
Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia
中科院分区：
文献类型：
--
作者：
Harada-Shiba M;Ohta T;Ohtake A;Ogura M;Dobashi K;Nohara A;Yamashita S;Yokote K;Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia
本文介绍了日本儿科学会和日本动脉粥样硬化学会联合工作组关于指导儿童家族性高胆固醇血症(FH)以改善FH预后的共识声明。FH是一种常见的遗传性疾病，由低密度脂蛋白(LDL)受体途径相关基因突变引起。由于FH患者从出生起就有很高的低密度脂蛋白(LDL-C)水平，动脉粥样硬化在儿童时期就开始和发展，这决定了预后。因此，为了降低FH患者患心血管疾病的终生风险，FH患者需要尽早确诊，并开始适当的治疗。以低密度脂蛋白-C-≥14 0 mg/dL、FH或早产儿冠心病家族史为诊断标准诊断杂合性FH。当确诊后，他们需要改善自己的生活方式，包括饮食和锻炼，这有时不足以降低低密度脂蛋白水平。对于10岁的儿童FH，如果≥-C水平持续高于180mgdL，则需要考虑药物治疗。他汀类药物是一线药物，从最低剂量开始，必要时会增加。目标低密度脂蛋白胆固醇水平理想情况下应为140毫克/分升。动脉粥样硬化的评估主要是通过超声等非侵入性方法进行的。对于纯合子FH患者，诊断是通过从婴儿时期就存在皮肤黄瘤或肌腱黄瘤，并且未经治疗的低密度脂蛋白胆固醇水平大约是杂合FH父母的两倍。应及时确定对药物治疗的反应性，如果治疗效果不够，则需要立即开始低密度脂蛋白的分离。
This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH. FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis. Therefore, in order to reduce their lifetime risk for cardiovascular disease, patients with FH need to be diagnosed as early as possible and appropriate treatment should be started. Diagnosis of pediatric heterozygous FH patients is made by LDL-C ≥ 140 mg/dL, and family history of FH or premature CAD. When the diagnosis is made, they need to improve their lifestyle including diet and exercise which sometimes are not enough to reduce LDL-C levels. For pediatric FH aged ≥ 10 years, pharmacotherapy needs to be considered if the LDL-C level is persistently above 180 mg/dL. Statins are the first line drugs starting from the lowest dose and are increased if necessary. The target LDL-C level should ideally be < 140 mg/dL. Assessment of atherosclerosis is mainly performed by noninvasive methods such as ultrasound. For homozygous FH patients, the diagnosis is made by existence of skin xanthomas or tendon xanthomas from infancy, and untreated LDL-C levels are approximately twice those of heterozygous FH parents. The responsiveness to pharmacotherapy should be ascertained promptly and if the effect of treatment is not enough, LDL apheresis needs to be immediately initiated.