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.
CDC, June 29, 2022
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.