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
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.Glu32Lys) and ATP-binding cassette subfamily G member 8 (ABCG8) (p.Ile419Asn) variants. Despite lifelong untreated hypercholesterolemia, she only exhibited Achilles tendon thickening, without any other atherosclerotic signs. Combination therapy with rosuvastatin (5 mg) and ezetimibe (10 mg) lowered her LDL-C levels to approximately 70 mg/dL. This paradoxical mild atherosclerosis, despite multiple genetic and lipoprotein risks, highlights the heterogeneity of familial hypercholesterolemia and the utility of genotype-guided risk stratification.
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BibTeX
@article{aono2026little,
title = {{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}},
author = {Kazuto Aono and Junji Kobayashi and Hayato Tada and Yoshiro Maezawa and Koutaro Yokote},
journal = {Internal Medicine},
year = {2026},
month = jul,
doi = {10.2169/internalmedicine.6559-25},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6559-25/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - 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
AU - Kazuto Aono
AU - Junji Kobayashi
AU - Hayato Tada
AU - Yoshiro Maezawa
AU - Koutaro Yokote
PY - 2026
DA - 2026/07/15
JO - Internal Medicine
DO - 10.2169/internalmedicine.6559-25
UR - https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6559-25/_article
AB - 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.Glu32Lys) and ATP-binding cassette subfamily G member 8 (ABCG8) (p.Ile419Asn) variants. Despite lifelong untreated hypercholesterolemia, she only exhibited Achilles tendon thickening, without any other atherosclerotic signs. Combination therapy with rosuvastatin (5 mg) and ezetimibe (10 mg) lowered her LDL-C levels to approximately 70 mg/dL. This paradoxical mild atherosclerosis, despite multiple genetic and lipoprotein risks, highlights the heterogeneity of familial hypercholesterolemia and the utility of genotype-guided risk stratification.
SN - 1349-7235
SN - 0918-2918
ER -