Internal medicine (Tokyo, Japan)
Little Evidence of Atherosclerosis in a Middle-Aged Japanese Woman with Familial Hypercholesterolemia Carrying PCSK9 (p.Glu32Lys) and ABCG8 (p.Ile419Asn) Variants Despite Elevated Lipoprotein(a) Levels.
Kazuto Aono, Junji Kobayashi, Hayato Tada, Yoshiro Maezawa, Koutaro Yokote
Published: 202510.2169/internalmedicine.6559-25
Abstract
A 44-year-old Japanese woman presented with low-density lipoprotein cholesterol (LDL-C) 214 mg/dL and lipoprotein(a) 65 mg/dL. Targeted next-generation sequencing identified heterozygous proprotein convertase subtilisin/kexin type 9 (PCSK9) (p.Glu32L…
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