The use of diagnostic tools that rely on the presence of physical features, premature CAD, and family history limits diagnostic efficacy and the goal of identifying all patients with FH because although these tools have higher specificity, they have lower sensitivity. Diagnostic accuracy is key; however, to best identify and subsequently treat the spectrum of patients with FH (inclusive of those with an identifiable pathogenic variant or variants [genotype positive], those without [phenotype positive, genotype negative], and those who do not undergo genetic testing), both genotype-positive and phenotype-positive definitions of FH should be used
![](https://demo.bcmsolutions.com.vn/amgen/wp-content/themes/AMGEN-theme/assets/img/diagnosing-fh/screening-extreme-thumbnail.jpg)
![](https://demo.bcmsolutions.com.vn/amgen/wp-content/themes/AMGEN-theme/assets/img/diagnosing-fh/adult-thumbnail.png)
![](https://demo.bcmsolutions.com.vn/amgen/wp-content/themes/AMGEN-theme/assets/img/diagnosing-fh/child-thumbnail.png)
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(two successive occasions after 3 months diet) -
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