Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017

Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia

Research output: Contribution to journalLetter

21 Citations (Scopus)

Abstract

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).

Original languageEnglish
Pages (from-to)751-770
Number of pages20
JournalJournal of Atherosclerosis and Thrombosis
Volume25
Issue number8
DOIs
Publication statusPublished - 2018 Jan 1

Fingerprint

Hyperlipoproteinemia Type II
Guidelines
Drug therapy
Screening
Tendons
Coronary Artery Disease
Skin
Xanthomatosis
Blood Component Removal
Therapeutics
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Drug Therapy
Blood
Inborn Genetic Diseases
Homozygote
Lipids
Heterozygote
oxidized low density lipoprotein
Early Diagnosis
Atherosclerosis

Keywords

  • Adult
  • Diagnosis criteria
  • Drug therapy
  • Familial hypercholesterolemia
  • Heterozygote
  • Homozygote
  • LDL apheresis
  • Lifestyle habits
  • Treatment guidelines

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine
  • Biochemistry, medical

Cite this

Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia (2018). Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017. Journal of Atherosclerosis and Thrombosis, 25(8), 751-770. https://doi.org/10.5551/jat.CR003

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

In: Journal of Atherosclerosis and Thrombosis, Vol. 25, No. 8, 01.01.2018, p. 751-770.

Research output: Contribution to journalLetter

Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia 2018, 'Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017', Journal of Atherosclerosis and Thrombosis, vol. 25, no. 8, pp. 751-770. https://doi.org/10.5551/jat.CR003
Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia. Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017. Journal of Atherosclerosis and Thrombosis. 2018 Jan 1;25(8):751-770. https://doi.org/10.5551/jat.CR003
Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia. / Guidelines for diagnosis and treatment of familial hypercholesterolemia 2017. In: Journal of Atherosclerosis and Thrombosis. 2018 ; Vol. 25, No. 8. pp. 751-770.
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abstract = "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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AU - Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia

AU - Harada-Shiba, Mariko

AU - Arai, Hidenori

AU - Ishigaki, Yasushi

AU - Ishibashi, Shun

AU - Okamura, Tomonori

AU - Ogura, Masatsune

AU - Dobashi, Kazushige

AU - Nohara, Atsushi

AU - Bujo, Hideaki

AU - Miyauchi, Katsumi

AU - Yamashita, Shizuya

AU - Yokote, Koutaro

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N2 - 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).

AB - 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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KW - Drug therapy

KW - Familial hypercholesterolemia

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KW - Lifestyle habits

KW - Treatment guidelines

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