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Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017

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  • Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia
  • Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia. Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017

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Abstract

<p>Statement</p><p>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) </p><p>2. For a diagnosis of FH, at least 2 of the following criteria should be satisfied:</p><p>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) </p><p>3. Intensive lipid-lowering therapy is necessary for the treatment of FH. First-line drug should be statins. (Recommendation level A, Evidence level 3) </p><p>4. Screening for CAD as well as asymptomatic atherosclerosis should be conducted periodically in FH patients. (Recommendation level A) </p><p>5. For homozygous FH, consider LDL apheresis and treatment with PCSK9 inhibitors or MTP inhibitors. (Recommendation level A) </p><p>6. For severe forms of heterozygous FH who have resistant to drug therapy, consider PCSK9 inhibitors and LDL apheresis. (Recommendation level A) </p><p>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) </p>

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