家族性高膽固醇血症的診斷與治療新進展

顏宗義; 吳昱鋭; 蘇大成

doi:10.3966/168232812021093103002

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P169 - 186

医药卫生 > 社会医学

DOI： 10.7023/TJFM

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家族性高胆固醇血症的诊断与治疗新进展

Updated Guidelines for the Diagnosis and Treatment of Familial Hypercholesterolemia

颜宗义(Tsung-Yi Yen) ；吴昱鋭(Yu-Rui Wu) ；苏大成(Ta-Chen Su)

台湾家庭医学杂志； 31 卷 3 期 (2021 / 09 / 01) ， P169 - 186

繁体中文 DOI： 10.3966/168232812021093103002

家族性高胆固醇血症；低密度脂蛋白胆固醇； PCSK9抑制剂； familial hypercholesterolemia ； low-density lipoprotein cholesterol ； PCSK9 inhibitor

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摘要 │ 参考文献 (51) │ 国际计量

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Familial hypercholesterolemia (FH) is highly correlated with cardiovascular and cerebrovascular diseases. With the development of advanced screening techniques and genetic medicine, previous mystery surrounding FH has been gradually unveiled to facilitate in-time diagnosis and treatment. Early intervention of the genetic condition has shown to have positive influence on patients' prognosis and qualify of life. FH as an autosomal dominant genetic disorder can be divided into homozygous FH (HoFH) and heterozygous FH (HeFH) by genotypes. In patients with HeFH, the low-density lipoprotein cholesterol (LDL-C) can be as high as 200-400 mg/dL, and the cardiovascular risk is ten times higher than that of healthy people if left untreated. For patients with HoFH, the LDL-C is even higher (usually above 500 mg/dL), making them more vulnerable to severe cardiovascular complications. Family history of early cardiovascular disease and hyperlipidemia-associated physical examination identifying the presence of corneal arcus, tendon xanthoma and eruptive xanthoma are suggestive of the diagnosis of FH. Details of the FH diagnosis can be found in the Dutch Lipid Clinic Network FH criteria and the Taiwan FH diagnostic criteria. According to the Taiwanese guidelines, the goal of treating FH is to bring LDL-C down to 100 mg/dL or below in adults and 135 mg/dL or below in children, while the practice of risk factor analysis is more delicate and the treatment goals more rigorous in the United States and Europe. In terms of lipid-lowering therapy, in addition to traditional statins, bile acid-binding resins, cholesterol absorption inhibitors, and nicotinic acid, novel agents such as evolucumab or alirocumab and other PCSK9 inhibitors have also reported excellent efficacy. There are several other emerging medications showing satisfactory effectiveness but still in need of approval in Taiwan, such as MTP inhibitors (lomitapide), Antisense oligonucleotide (mipomersen), and bempedoic acid (nexletol). Meanwhile, with its efficacy and safety confirmed now, inclisiran, first proposed at the 2019 European Society of Cardiology, can be expected to become a promising medication against hyperlipidemia in the future. In conclusion, FH is not a rare hereditary disease and can be diagnosed by molecular genetic methods based on the National Taiwan University Hospital FH next-generation sequencing platform and the Taiwanese FH criteria. The gold standard treatment of FH should be aggressive with high potency statins alone or combined with ezetimibe or PCSK-9 inhibitor, striving to reduce serum LDL-C to 100 mg/dL or below for those without coronary heart disease, and to 70 mg/dL or below for those with coronary heart disease. Early diagnosis and aggressive treatment of patients with FH is a good example of preventive cardiology.

参考文献 ( 51 ) 〈TOP〉

2018 ACC/AHA Multisociety Guideline on the Management of Blood Cholesterol. https://reurl.cc/L0mMAx Accessed July 23, 2020.
Abumweis, SS,Barake, R,Jones, PJ(2008).Plant sterols/stanols as cholesterol lowering agents: a meta-analysis of randomized controlled trials.Food Nutr Res,52
Alonso, R,Cuevas, A,Mata, P(2019).Lomitapide: a review of its clinical use, efficacy, and tolerability.Core Evid,14,19-30.
Alonso, R,Cuevas, A,Mata, P(2019).Lomitapide: areview of its clinical use, efficacy, and tolerability.Core Evid,14,19-30.
American Academy of Ophthalmology: Xanthelasma. https://www.aao.org/BcscSnippetDetail.aspx?id=97ede449-f02f-4f54-9592-5a52ce2e2800 Accessed July 23, 2020.

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