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

Abstract

Purpose of reviewPatients 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 findingsCascade 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.SummaryCascade 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.

Knowledge, attitude, and practice of physicians towards familial hypercholesterolemia in north regions of Saudi Arabia

“…The inadequate reporting of FH by general practitioners (GPs) might be addressed, enhancing patient outcomes 10 . GPs requested over 92% of the lipid profiles in the community, indicating that they are crucial in identifying people with FH, with a multicountry study reporting varying rates of FH diagnoses, and studies pointing out that doctors' understanding and awareness of FH were lacking 11,12 . Also, the coronavirus disease-2019 (COVID-19) pandemic affected the detection and screening process for FH worldwide 13 .…”

DNA testing in dyslipidemia: attitudes and complexities

“…Although a positive DNA diagnosis provided an opportunity to inform relatives of the potential health risks of high cholesterol, a need for greater awareness and education was identified, both among care providers and families, to increase uptake of cascade screening. Barriers to cascade screening have been noted previously in other FH registries [6], with the result that newer guidance recommends a more assertive, national strategy for cascade screening to find new cases of FH [7].…”