Observational studyDeutsches Arzteblatt international2025
Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.
Observational study in Deutsches Arzteblatt international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03934957 (A Single Center, Prospective, Epidemiologic Cohort Study With Emphasis on Imaging to Improve the Identification of Individuals at Risk for Major Chronic Diseases and to Improve Early Diagnosis and Survival), which is not on this map. Cited by 4 papers.
What it found
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The trial behind it
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A Single Center, Prospective, Epidemiologic Cohort Study With Emphasis on Imaging to Improve the Identification of Individuals at Risk for Major Chronic Diseases and to Improve Early Diagnosis and Survival
Who cites it
4 citing papers in PubMed.
- In Reply.Deutsches Arzteblatt international · 2026Article
- Lacking Evidence.Deutsches Arzteblatt international · 2026Article
- Paradigm Shift.Deutsches Arzteblatt international · 2026Article
- Important Aspects.Deutsches Arzteblatt international · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial hypercholesterolemia (FH) is among the more common monogenic diseases, yet population-based data on genetically confirmed FH (genFH) and its association with LDL cholesterol (LDL-C) in Germany are lacking.
methodsIn the Hamburg City Health Study (registration: Clinical Trials.gov, NCT03934957), five FH-associated genes were exam - ined for pathogenic mutations with whole genome sequencing and compared with LDL-C levels that had been corrected for lipidlowering medication. Severe hypercholesterolemia was defined as an LDL-C level of 190 mg/dL or above.
resultsThere were 7373 adult participants (49.1% women; median age 62 years), of whom 23 had FH, corresponding to a prevalence of 0.31% (95% confidence interval [CI]: [0.21; 0.47]), or a prevalence ratio of 1:321 [1:213; 1:476]. All genFH cases were due to mutations in the LDLR gene. The median treatment-adjusted LDL-C level was higher in genFH cases (191 mg/dL) than in persons without genFH (128 mg/dL; p <0.001). Eleven of the participants with genFH had severe hypercholesterolemia. Among the 7253 participants without genFH, 465 had severe hypercholesterolemia. Only 2.3% (n = 11) of the severely hypercholesterolemic participants had genFH. Forty-three people would need to be genetically tested to identify one genFH case if an LDL-C threshold of ≥190 mg/dL is selected, 98 people at ≥160 mg/dL, and 175 people at ≥130 mg/dL.
conclusionThe prevalence of genFH in this German study was 0.31%, which corresponds to the global average. As only half of the persons from our adult cohort identified as having genFH had severe hypercholesterolemia, population-based genetic screening would seem to be of questionable benefit.
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