Japanese Diagnostic Criteria for Pediatric Familial Hypercholesterolemia 2022

Low-density lipoprotein cholesterol (LDL-C) is already observed to be high since birth in patients with familial hypercholesterolemia (FH).The prognosis for FH can be improved by early treatments, so FH should be correctly diagnosed in childhood.Diagnosing pediatric FH is not easy because FH children have no clinical signs, except for homozygous FH.A gene analysis for this disease has not yet been popular in many countries, including Japan.Therefore, FH is generally diagnosed clinically by hyper-LDL-C plus a family history of FH.The diagnostic criteria for pediatric FH differ from country to country, and the diagnosis rates are reported to be extremely low in many countries 1) .Most importantly, it is necessary to not overlook children with FH.The Japan Atherosclerosis Society (JAS) published new diagnostic criteria for pediatric FH, aged ＜15 years, in 2022 2) .I herein explain the background to the revised criteria on behalf of the FH working group and newly introduce the diagnostic score sheet which can be used with the criteria.