Cascade screening for familial hypercholesterolemia should be organized at a national level

Purpose of review Patients with familial hypercholesterolemia (FH) have a markedly increased risk of premature cardiovascular disease. However, there are effective lipid-lowering therapies available to reduce the risk of cardiovascular disease. This makes it important to diagnose these patients. The most cost-effective strategy to diagnose patients with FH is to perform cascade screening. However, cascade screening as part of ordinary healthcare has not been very successful. Thus, there is a need to implement more efficient cascade screening strategies. Recent findings Cascade screening for FH should be organized at a national level and should be run by dedicated health personnel such as genetic counsellors. As part of a national organization a national registry of patients with FH needs to be established. Moreover, for cascade screening to be effective, diagnosis of FH must be based on identifying the underlying mutation. There should preferably only be one genetics centre in each country for diagnosing FH, and this genetics centre should be an integrated part of the national cascade screening program. Cascade screening for FH is very effective and should be organized at a national level. Even a modest national cascade screening program can result in a large number of patients being identified.

Automated summary

Patients with familial hypercholesterolemia (FH) are at a high risk of premature cardiovascular diseases, but there are effective lipid-lowering therapies available. It is important to diagnose these patients. Organizing cascade screening for FH at a national level and establishing a national registry and a genetics center for diagnosis can greatly improve the effectiveness of the screening program.