The Japan Atherosclerosis Society has released new guidelines for diagnosis and treatment of familial hypercholesterolemia (FH). The guidelines are published in the Journal of Atherosclerosis and Thrombosis.
Mariko Harada-Shiba, Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, and colleagues drafted the guideline.
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, in addition to early diagnosis and intensive treatment, family screening (cascade screening) is required.
- For a diagnosis of FH, at least 2 of the following criteria should be satisfied: LDL-C ≥180 mg/dL, tendon/skin xanthomas, and the history of FH or premature coronary artery disease (CAD) within 2nd-degree blood relatives.
- Intensive lipid-lowering therapy is necessary for the treatment of FH. The first-line drug should be statin.
- Screening for coronary artery disease as well as asymptomatic atherosclerosis should be conducted periodically in FH patients.
- For homozygous FH, consider LDL apheresis and treatment with PCSK9 inhibitors or MTP inhibitors.
- For severe forms of heterozygous FH who have resistant to drug therapy, consider PCSK9 inhibitors and LDL apheresis.
- 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.
For further reference click on the link: https://doi.org/10.5551/jat.CR003
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