{
  "abstract": "Familial hypercholesterolaemia (FH) is among the most common monogenic disorders, affecting at least 1 in 250 individuals. Lifelong elevation of LDL cholesterol from birth can cause accelerated atherosclerosis and premature cardiovascular disease. However, the vast majority of affected children (and adults) remain undiagnosed. Population-based childhood screening, combining LDL cholesterol measurement with genetic testing, enables early diagnosis and treatment. This review summarizes evidence on childhood FH screening, including disease burden, treatment efficacy, diagnostic performance, and economic considerations. Although no randomized trial has compared screened and unscreened populations, extensive indirect evidence supports the benefit of early detection and lipid-lowering therapy.",
  "abstract_shown": true,
  "affiliations": [
    "University Medical Center Hamburg-Eppendorf Institute of Human Genetics Martinistr. 52 20246 Hamburg Germany",
    "University Medical Center Hamburg-Eppendorf Institute of Human Genetics Hamburg-Eppendorf Germany"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 2,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Christian Schlein",
      "orcid": "0000-0002-2791-1790"
    },
    {
      "affs": [
        1
      ],
      "name": "Sharlaine Y. L. Piel-Behrendt",
      "orcid": "0009-0009-8667-5503"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/0nagedg96wepz.bib",
  "cited_by": 0,
  "doi": "10.1515/medgen-2026-3033",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13737851/",
  "id": "0nagedg96wepz",
  "issns": [
    "0936-5931",
    "1863-5490"
  ],
  "landing_url": "https://doi.org/10.1515/medgen-2026-3033",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Screening in Human Genetics – new opportunities, new responsibilities"
    ],
    [
      "openalex",
      "2705|Lipoproteins and Cardiovascular Health"
    ]
  ],
  "openalex": "W7225325380",
  "pdf_url": null,
  "pmcid": "PMC13737851",
  "pmid": "42992027",
  "published": "2026-11-06",
  "publisher": "De Gruyter",
  "ris": "https://research.draconitic.com/paper/0nagedg96wepz.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:22:57Z",
      "native_id": "PMC13737851",
      "source": "pmc",
      "url": "https://doi.org/10.1515/medgen-2026-3033"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2705|Lipoproteins and Cardiovascular Health",
      "subfield": "cardiovascular"
    }
  ],
  "title": "Population-based screening for familial hypercholesterolaemia",
  "title_text": "Population-based screening for familial hypercholesterolaemia",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:22:57Z",
  "url": "https://research.draconitic.com/paper/0nagedg96wepz",
  "venue": "Medizinische Genetik",
  "versions": []
}