2017 Volume 44 Issue 6 Pages 838-845
Familial hypercholesterolemia (FH) is mainly an autosomal dominant disorder caused by mutations in the LDL receptor and related molecules causing increased serum LDL-cholesterol (LDL-C). It is characterized by Achilles tendon and tuberous xanthomas and premature coronary artery disease (CAD) as well as hyper-LDL-cholesterolemia in the family members. Dominant-active mutations in the PCSK9 gene is also involved in the pathogenesis of FH. Japan Atherosclerosis Society (JAS) has published the 2017 Edition of Guidelines for Prevention of Atherosclerotic Cardiovascular Diseases, in which the diagnosis and treatment strategies for FH are described. Prevalence of heterozygous FH is estimated to be one in 200-500 and FH is the most frequent genetic disorder, however less than 1% of FH patients are diagnosed properly. Therefore, the awareness of FH and its early diagnosis is crucial from the point of health check-up.
Recent advances in the drug development of FH such as inhibitors of PCSK9 and MTP have enabled us to lower LDL-C less than 100 mg/dL, thus CAD can be reduced even in FH patients by early diagnosis and treatment. To treat FH patients, statins and/or intestinal cholesterol transporter inhibitor are used. In case LDL-C reduction is not adequate, the addition of PCSK9 inhibitor and/or resins and/or probucol is considered. In case LDL-C reduction is still not enough, LDL apheresis is applied. The indications of LDL apheresis are homozygous and severe heterozygous FH patients. JAS has recently published guidelines for adult and pediatric FH patients. For the primary prevention of CAD, the treatment goal of LDL-C is less than 100 mg/dL or less than 50% of the pretreatment LDL-C level is also possible when patients are resistant to drug therapy. For the secondary prevention of CAD, the treatment goal of LDL-C is less than 70 mg/dL. For pediatric FH patients, in collaboration with Japan Pediatric Society, JAS has published a Guide for the Treatment of Pediatric FH. Although resins were the first-choice drug in Japan, statins are now first-choice for pediatric FH patients over 10 years old.
JAS has been involved in the promotion of FH awareness in Japan by holding lectures open to the public, seminars for medical professionals and press conferences for journalists. In conjunction with the FH Day, JAS has planned and supported these meetings. The early diagnosis and treatment are essential for FH, therefore JAS will continue to promote these educational activities.
