Work

Population-based screening for familial hypercholesterolaemia

Year: 2026

Type: article

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.

Source: Medizinische Genetik

DOI: 10.1515/medgen-2026-3033

Authors: Christian Schlein, Sharlaine Y. L. Piel-Behrendt

Institution: University Medical Center Hamburg-Eppendorf

Language: English

Topic: Lipoproteins and Cardiovascular Health

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: