Guidelines for the Management of Familial Hypercholesterolemia

• DOI: 10.5551/jat.14621
• Publication Date: 2012-10-24T22:43:02Z
• Authors: 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
• Keywords: Guideline; Xanthoma

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