Reviews, Commentaries, etc. - Okamura, Tomonori

Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017

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.

Journal of Atherosclerosis and Thrombosis (Journal of Atherosclerosis and Thrombosis)  25 ( 8 ) 751 - 770 2018

ISSN  13403478

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© 2018 Japan Atherosclerosis Society. Statement 1. 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) 2. 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) 3. Intensive lipid-lowering therapy is necessary for the treatment of FH. First-line drug should be statins. (Rec-ommendation level A, Evidence level 3) 4. Screening for CAD as well as asymptomatic atherosclerosis should be conducted periodically in FH patients. (Recommendation level A) 5. For homozygous FH, consider LDL apheresis and treatment with PCSK9 inhibitors or MTP inhibitors. (Rec-ommendation level A) 6. For severe forms of heterozygous FH who have resistant to drug therapy, consider PCSK9 inhibitors and LDL apheresis. (Recommendation level A) 7. 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).

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