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Screening

Screening

The most cost-effective approach for detecting new cases of FH is family cascade screening of close relatives of a diagnosed index case using a phenotypic or genotypic strategy.  Diagnostic testing based on a pathogenic mutation is more accurate, however, than using the phenotype alone. If a DNA testing service is not available, cascade screening should be carried out using age-, gender- and country-specific plasma LDL cholesterol levels alone.

These for instance could occur at scheduled universal Child and Adolescent Immunization points or at induction for government service. The total number of people passing through these two processes alone would account for more than half the world's population.

Because of higher pre-test probability, clinical diagnostic tools for index cases should not be used for relatives. The drawing of a family pedigree can be valuable in planning the screening process. Cascade screening should start with first-degree relatives (i.e. parents, siblings, offsprings) and then be extended to second- and third-degree relative.

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