ArticleActa diabetologica2026
How the genetic diagnosis of familial hypercholesterolemia can be guided by clinical features. Preliminary evidences from an Italian single-center experience.
Article in Acta diabetologica, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
aimFamilial Hypercholesterolemia (FH) is highly prevalent in humans. To date, the need for genetic testing is indicated by widely used clinical scores (different for adults and children) that support the diagnosis of FH. The performance of genetic testing is a matter of debate and is likely dependent on different clinical, ethnic and environmental contexts, with sparse data from Italy. Our aims were to evaluate: (i) the performance of genetic testing in Italian patients with a clinical diagnosis of FH; (ii) the role of clinical features on the genetic testing performance.
methodsPathogenic (P) or likely pathogenic (LP) variants in ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9 were investigated by WES and confirmed by Sanger sequencing.
resultsThe pick-up rate was 39.8%, progressively increasing (p < 0.001) with increasing clinical score. Discrimination of clinical score was excellent (AU-ROC = 0.897; 95% CI: 0.831, 0.963; p = 3.4 × 10
conclusionOur preliminary evidences suggest that patients with intermediate levels on the currently available clinical scores are best suited for genetic testing for familial hypercholesterolemia (FH) and that the discriminatory power of these clinical scores might be improved by adding further clinical characteristics.
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