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Last Posted: Aug 11, 2022
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Universal screening for familial hypercholesterolemia in 2 populations.
Sustar Ursa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 8

In Europe, >2 million individuals with familial hypercholesterolemia (FH) are currently undiagnosed. Effective screening strategies for FH diagnosis in childhood are urgently needed. We assessed the overall performances of 2 different FH screening programs in children: universal screening program with opt-out and opt-in type participation. Our study suggests that universal 3-step FH screening approach in children enabled detection of most children and their parents in every generation screened at reasonable costs. Opt-out screening strategy might be preferable over opt-in screening strategy.

Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.
Jones Laney K et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003549

We conducted a retrospective cohort study of MyCode participants with an FH risk variant beginning 2 years before disclosure until January 16, 2019. We analyzed lipid-lowering prescriptions (clinician behavior), medication adherence (participant behavior), and LDL (low-density lipoprotein) cholesterol levels (health outcome impact) pre- and post-disclosure. Data were collected from electronic health records and claims. Despite disclosure of an FH risk variant, nonprescribing and nonadherence to lipid-lowering therapy remained high. However, when clinicians intensified medication regimens and participants adhered to medications, lipid levels decreased.

Lipoprotein (a)
CDC, June 29, 2022 Brand

High levels of lipoprotein (a) increase your likelihood of having a heart attack, a stroke, and aortic stenosis, especially if you have familial hypercholesterolemia or signs of coronary heart disease. High Lp(a) levels, defined as greater than 50 mg/dL (125 nmol/L),3 are common. Median Lp(a) levels vary by race and sex.4 High Lp(a) is seen in people of all races and ethnicities but appears to be more common in Black people.4 Many people with high Lp(a) have no symptoms. However, your doctor may suspect that you have high Lp(a) if you have one or more risk factors such as family history, familial hypercholesterolemia, peripheral artery disease and others.

A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia.
Polanski Amanda et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 6

A total of 46 studies across 32 countries were included in the review. All studies were effective in increasing FH detection. In total, 12 different intervention types were extracted with the most used being cascade and electronic medical record screening-based interventions. Given the diversity of effective interventions identified in this review, future efforts could explore approaches that maximize identification through a combination of interventions. Our results support one such strategy that uses electronic medical records to screen for index cases and a 2-step indirect and direct contact method of index cases' relatives.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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