Abstract 13659: Pediatric Mass Screening (Kagawa Pediatric Preventive Checkup) and Gene Screening are Useful for Early Diagnosis of Familial Hypercholesterolemia

IntroductionFamilial hypercholesterolemia (FH) is characterized by hyper-low-density lipoprotein (LDL) cholesterolemia from birth that promote arteriosclerosis in the coronary arteries at an early age. Because the incidence of coronary artery disease (CAD) in FH patients without treatment is extreme...

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Veröffentlicht in:Circulation (New York, N.Y.) N.Y.), 2019-11, Vol.140 (Suppl_1 Suppl 1), p.A13659-A13659
Hauptverfasser: Ishikawa, Shohei, Sakamoto, Takuma, Kurashita, Genki, Izumi, Takahiro, Inoue, Tomoko, Nasu, Eriko, Tobiume, Atsushi, Yokoyama, Shota, Hamaya, Hideyuki, Matsunaga, Keiji, Kawakami, Ryo, Miyake, Yuichi, Ishizawa, Makoto, Ishikawa, Kaori, Murakami, Kazushi, Noma, Takahisa, Minamino, Tetsuo
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Sprache:eng
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Zusammenfassung:IntroductionFamilial hypercholesterolemia (FH) is characterized by hyper-low-density lipoprotein (LDL) cholesterolemia from birth that promote arteriosclerosis in the coronary arteries at an early age. Because the incidence of coronary artery disease (CAD) in FH patients without treatment is extremely high, the guideline for pediatric FH recommends diagnosis of FH by 10 years old for early treatment. FH is a genetic autosomal dominant disorder caused by impaired genes related to LDL. Although heterozygous FH patients in Japan are observed in one in 200-500 of the general population, similar to those in other countries, FH is known to be underdiagnosed and diagnostic rate in the most developed countries including Japan is less than 1 %. In this study, we hypothesized gene screening of children with hyper-LDL cholesterolemia could be useful for early diagnosis of FH.MethodsIn Kagawa prefecture, LDL-C levels are measured for all children, when they are 10 years old (Kagawa pediatric preventive checkup). The children with hyper-LDL cholesterolemia (LDL-C level ≥ 140 mg/dL), this is a clinical diagnostic criteria for pediatric FH, are referred to Kagawa University Hospital (KUH) for diagnosis of FH. We performed FH genetic screening of them.ResultsTwenty-four children were performed genetic screening in KUH. Fourteen children (58.3%) were genetically diagnosed with FH (11 LDL receptor (LDL-R) mutations, one apolipoprotein B100 (APOB) mutation and two proprotein convertase subtilisin/kexin type 9 (PCSK9) mutations). Furthermore, we found a LDL-R adapter protein 1 (LDLRAP1) mutation and an ATP-binding cassette transporter G8 (ABCG8) mutation that caused autosomal recessive hyper cholesterolemia (ARH). Only one of the 14 children diagnosed with FH genetically was diagnosed with FH clinically, because the others of them didn’t fulfill the other clinical diagnostic criteria for pediatric FH (family history of FH or premature CAD).ConclusionsPediatric mass screening (Kagawa pediatric preventive checkup) and gene screening are useful for early diagnosis of FH and discrimination between FH and ARH.
ISSN:0009-7322
1524-4539
DOI:10.1161/circ.140.suppl_1.13659