REVIEW – March 2021

Diagnostics of familial hypercholesterolaemia and its bottlenecks

Authors: Svenno Saan

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Abstract

Familial hypercholesterolaemia (FH) is generally diagnosed on the basis of clinical criteria. Cascade screening is used to identify new cases and, in certain situations, genetic testing is performed. Unfortunately, FH continues to be vastly underdiagnosed, possibly because of the low awareness of the condition, co-occurrence of causes of secondary hypercholesterolaemia, low accuracy of the diagnostic criteria and high costs of genetic testing.