{
  "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.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "name": "Kazuto Aono"
    },
    {
      "name": "Junji Kobayashi"
    },
    {
      "name": "Hayato Tada"
    },
    {
      "name": "Yoshiro Maezawa"
    },
    {
      "name": "Koutaro Yokote"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cmgw95wdh7ntb.bib",
  "cited_by": 0,
  "doi": "10.2169/internalmedicine.6559-25",
  "fulltext_url": "https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6559-25/_article",
  "id": "cmgw95wdh7ntb",
  "issns": [
    "1349-7235",
    "0918-2918"
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  "landing_url": "https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6559-25/_article",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "jstage-journal",
      "medicine/general"
    ],
    [
      "openalex",
      "2746|Lipoproteins and Cardiovascular Health"
    ]
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  "openalex": "W4417036108",
  "pdf_url": "https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_6559-25/_pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-07-15",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/cmgw95wdh7ntb.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:31Z",
      "native_id": "10.2169/internalmedicine.6559-25",
      "source": "jstage",
      "url": "https://www.jstage.jst.go.jp/article/internalmedicine/65/14/65_6559-25/_article"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Lipoproteins and Cardiovascular Health",
      "subfield": "surgery"
    }
  ],
  "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",
  "title_text": "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",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:31Z",
  "url": "https://research.draconitic.com/paper/cmgw95wdh7ntb",
  "venue": "Internal Medicine",
  "versions": []
}