Guidelines for the management of familial hypercholesterolemia

Mariko Harada-Shiba, Hidenori Arai, Shinichi Oikawa, Takao Ohta, Tomoo Okada, Tomonori Okamura, Atsushi Nohara, Hideaki Bujo, Koutaro Yokote, Akihiko Wakatsuki, Shun Ishibashi, Shizuya Yamashita

Research output: Contribution to journalArticlepeer-review

116 Citations (Scopus)

Abstract

Familial hypercholesterolemia (FH) is a highly prevalent autosomal dominant hereditary disease, generally characterized by three major signs, hyper-low-density-lipoprotein (LDL) cholesterolemia, tendon/skin xanthomas and premature coronary artery disease (CAD). Because the risk of CAD is very high in these patients, they should be identified at an early stage of their lives and started on intensive treatment to control LDL-cholesterol. We here introduce a new guideline for the management of FH patients in Japan intending to achieve better control to prevent CAD. Diagnostic criteria for heterozygous FH are 2 or more of 1) LDL-cholesterol ≥180 mg/dL, 2) tendon/skin xanthoma(s), and 3) family history of FH or premature CAD within second degree relatives, for adults; and to have both 1) LDL-cholesterol ≥140 mg/dL and 2) family history of FH or premature CAD within second degree relatives, for children. For the treatment of adult heterozygous FH, intensive lipid control with statins and other drugs is necessary. Other risks of CAD, such as smoking, diabetes mellitus, hypertension etc., should also be controlled strictly. Atherosclerosis in coronary, carotid, or peripheral arteries, the aorta and aortic valve should be screened periodically. FH in children, pregnant women, and women who wish to bear a child should be referred to specialists. For homozygotes and severe heterozygotes resistant to drug therapies, LDL apheresis should be performed. The treatment cost of homozygous FH is authorized to be covered under the program of Research on Measures against Intractable Diseases by the Japanese Ministry of Health, Labour, and Welfare.

Original languageEnglish
Pages (from-to)1043-1060
Number of pages18
JournalJournal of atherosclerosis and thrombosis
Volume19
Issue number12
DOIs
Publication statusPublished - 2012

Keywords

  • Achilles tendon thickness
  • Coronary artery disease
  • Diagnosis criteria
  • LDL cholesterol
  • LDL receptor

ASJC Scopus subject areas

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

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