Letters to the Editor
Lacking Evidence
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The study reported by Riccio et al., which investigated the rates of genetically determined familial hypercholesteremia (FH) in 7373 Germans (1), found a prevalence of 1 in 321, with half of the genetically positive participants having an LDL-C measurement of ≥190 mg/dL and 97.7% of those with an LDL-C measurement ≥190 mg/dL not carrying any pathogenic variant of FH. Other studies have yielded similar results. We think that the conclusion—that population based screening (for FH) is of questionable value—is not supported by the available evidence, as crucial clinical and considerations and aspects of cost effectiveness were not considered. In particular, genetic tests were recommended only in patients in whom the pretest probability according to clinical criteria is sufficiently high.
LDL-C is one of the most commonly determined laboratory parameters and can be used as a starting point for further diagnostic steps (2). Measuring LDL-C is a component of the statutory health check-up in Germany, which is accessed by 77% of 50-year-old men and 85% of 50-year-old women at least once every 10 years (3). The data required for a comprehensive detection of FH at the population level are therefore available without any further costs being incurred. The diagnostic yield can be increased significantly by means of cascade screening. Such combined approaches are cost effective (4).
We therefore emphatically support the opinion that prevails in the scientific literature—namely, that screening for FH and the offer of lipid therapy can have a significant effect on improving the health and life expectancy of the identified patients and should be carried out as a priority in the public health setting.
DOI: 10.3238/arztebl.m2026.0011
Dr. sc. hum. Felix Fath
Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim
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elix.fath@carehigh.de
Dr. rer. nat. Marcus E. Kleber
Medizinische Fakultät Mannheim der Universität Heidelberg, Mannheim
SYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim
Prof. Dr. med. Gerald Klose
Endokrinologie Bremen, Praxisgemeinschaft I Musa und S. Maierhof Bremen sowie Endokrinologie Bremen Dres. K. Spieker, C. Otte, I van de Loo
Conflict of interest statement
The authors declare that no conflict of interest exists.
| 1. | Riccio C, Arnold N, Koliopanos G, et al.: Familial hypercholesterolemia: Prevalence and discrepancy between genotype and phenotype. Findings of the population-based Hamburg City Health Study. Dtsch Arztebl Int 2025; 122: 511–6 CrossRef MEDLINE PubMed Central VOLLTEXT |
| 2. | Fath F, Bengeser A, Barresi M, et al.: FH ALERT: Efficacy of a novel approach to identify patients with familial hypercholesterolemia. Sci Rep 2021; 11: 20421 CrossRef MEDLINE PubMed Central |
| 3. | Institut für Qualität und Wirtschaftlichkeit im Gesundheitswesen (IQWiG): Check-Up für den „Check-Up“. 2024. www.iqwig.de/presse/pressemitteilungen/pressemitteilungen-detailseite_118720.html?utm_source=chatgpt.com (last accessed on 12 February 2026). |
| 4. | Faria R, Saramago P, Cox E, et al.: How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis. Atherosclerosis 2023; 367: 40–7 CrossRef MEDLINE |
