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The problem
Intervention: Two-step universal screening programme combining biochemical testing (LDL cholesterol measurement from fingertip blood) followed by genetic testing (focused variant panel and gene sequencing) for children with elevated cholesterol
Who it was tested with: Children aged 4.8-14.9 years attending routine paediatric examinations in Bavaria, Germany (25,431 children screened).
Experience from people who deliver programmes: stories, case studies and lessons learned. Valuable for understanding how and why, and for spotting what to test next, but not a measure of effect.
"The FH screening programme began in September 2020 in Bavaria and has involved up to 480 paediatricians. It included biochemical and genetic testing using 0.2 mL of blood taken from a fingertip. In case of low-density lipoprotein cholesterol (LDL-C) serum concentration ≥3.36 mmol/L (≥130 mg/dL), FH-causing variants were determined in the same sample with a focused panel covering most frequent variants (n = 48) and sequencing of relevant genes." This demonstrates a systematic two-step screening approach that successfully identified genetic variants in a large child population, showing that combined biochemical and genetic screening is feasible and effective for detecting FH in children.
Ascertainment bias was identified due to differential recruitment rates across paediatrician practices; the high prevalence was partly explained by a founder variant unusually common in this German population; findings may not generalise to other populations without similar founder variants; the study does not evaluate long-term health outcomes from early identification
Across countries and designs
1 study · 1 country
