Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017.
复制标题
DOI：
10.5551/jat.cr003
复制
发表时间：
2018-08-01
影响因子：
4.4
通讯作者：
Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia
中科院分区：
文献类型：
--
作者：
Harada-Shiba M;Arai H;Ishigaki Y;Ishibashi S;Okamura T;Ogura M;Dobashi K;Nohara A;Bujo H;Miyauchi K;Yamashita S;Yokote K;Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia
家族性高胆固醇血症（FH）是一种常染色体遗传性疾病，具有高低密度脂蛋白胆固醇血症、早发冠状动脉疾病以及肌腱和皮肤黄色瘤3个主要临床特征。由于冠状动脉疾病（CAD）的风险相当高，除了早期诊断和强化治疗外，还需要进行家庭筛查（级联筛查）（推荐级别A）诊断FH至少应满足以下标准中的2项：①LDL-C≥180mg/dL，②肌腱/皮肤黄色瘤，③二级血亲内有FH或早发CAD病史（推荐级别A）强化降脂治疗对于 FH 的治疗是必要的。一线药物应该是他汀类药物。 （推荐级别 A，证据级别 3）FH 患者应定期进行 CAD 和无症状动脉粥样硬化筛查。 （推荐级别 A）对于纯合子 FH，考虑 LDL 分离术和 PCSK9 抑制剂或 MTP 抑制剂治疗。 （推荐级别 A）对于药物治疗耐药的严重杂合子 FH，考虑 PCSK9 抑制剂和 LDL 分离术。 （推荐级别A）将FH纯合子以及对药物治疗有抵抗力的杂合子、儿童、怀孕或有生育意愿的杂合子转诊给专科医生。 （推荐等级A）
Familial hypercholesterolemia (FH) is an autosomal hereditary disease with the 3 major clinical features of hyper-LDL-cholesterolemia, premature coronary artery disease and tendon and skin xanthomas. As there is a considerably high risk of coronary artery disease (CAD), in addition to early diagnosis and intensive treatment, family screening (cascade screening) is required (Recommendation level A) For a diagnosis of FH, at least 2 of the following criteria should be satisfied: ① LDL-C ≥ 180 mg/dL, ② Tendon/skin xanthomas, ③ History of FH or premature CAD within 2nd degree blood relatives (Recommendation level A) Intensive lipid-lowering therapy is necessary for the treatment of FH. First-line drug should be statins. (Recommendation level A, Evidence level 3) Screening for CAD as well as asymptomatic atherosclerosis should be conducted periodically in FH patients. (Recommendation level A) For homozygous FH, consider LDL apheresis and treatment with PCSK9 inhibitors or MTP inhibitors. (Recommendation level A) For severe forms of heterozygous FH who have resistant to drug therapy, consider PCSK9 inhibitors and LDL apheresis. (Recommendation level A) Refer FH homozygotes as well as heterozygotes who are resistant to drug therapy, who are children or are pregnant or have the desire to bear children to a specialist. (Recommendation level A)