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

Abstract readCase Reports

In one paragraph

Article in Internal medicine (Tokyo, Japan), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Kazuto AonoDepartment of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Japan.

Junji KobayashiDepartment of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Japan.

Hayato TadaDepartment of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Japan.

Yoshiro MaezawaDepartment of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Japan.

Koutaro YokoteChiba University, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

AtherosclerosisATP Binding Cassette Transporter, Subfamily G, Member 8Hyperlipoproteinemia Type IILipoprotein(a)Proprotein Convertase 9AdultAnticholesteremic AgentsCholesterol, LDLEast Asian PeopleEzetimibeFemaleHumansJapanRosuvastatin CalciumABCG8 protein, humanAnticholesteremic AgentsATP Binding Cassette Transporter, Subfamily G, Member 8Cholesterol, LDLEzetimibeLipoprotein(a)PCSK9 protein, humanProprotein Convertase 9Rosuvastatin CalciumACBG8heterozygous familial hypercholesterolemiaLp (a)PCSK9

Identifiers

PMID41338988

DOI10.2169/internalmedicine.6559-25

PMCPMC13447603

What Socratic holds

Texttitle and abstract

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.