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Peer-reviewedCC BY 4.0Medizinische Genetik

Population-based screening for familial hypercholesterolaemia

  • Christian Schlein1
  • Sharlaine Y. L. Piel-Behrendt2
  1. 1University Medical Center Hamburg-Eppendorf Institute of Human Genetics Martinistr. 52 20246 Hamburg Germany
  2. 2University Medical Center Hamburg-Eppendorf Institute of Human Genetics Hamburg-Eppendorf Germany
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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.

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Cite

BibTeXRIS
BibTeX
@article{schlein2026populationbased,
  title = {{Population-based screening for familial hypercholesterolaemia}},
  author = {Christian Schlein and Sharlaine Y. L. Piel-Behrendt},
  journal = {Medizinische Genetik},
  year = {2026},
  month = nov,
  doi = {10.1515/medgen-2026-3033},
  url = {https://doi.org/10.1515/medgen-2026-3033},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Population-based screening for familial hypercholesterolaemia
AU  - Christian Schlein
AU  - Sharlaine Y. L. Piel-Behrendt
PY  - 2026
DA  - 2026/11/06
JO  - Medizinische Genetik
DO  - 10.1515/medgen-2026-3033
UR  - https://doi.org/10.1515/medgen-2026-3033
AB  - 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.
SN  - 0936-5931
SN  - 1863-5490
ER  -