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Last Posted: Jun 13, 2024
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It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States

From the abstract: "Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth, leading to significant premature cardiovascular morbidity and mortality, if left untreated. Homozygous familial hypercholesterolemia is severely underdiagnosed and undertreated in the United States (US), despite guidelines recommendations for universal pediatric lipid screening in children aged 9–11. "

Heart Disease Risk Higher with Genetic Variant Plus Even Slightly Elevated Cholesterol
Inside Precision Medicine, February 2, 2023

From the article: " Even people with moderately elevated low-density lipoprotein cholesterol (LDL-C) have higher risk of heart disease if they also had a variant for familial hypercholesterolemia (FH), according to new research. The long-term study included over 20,000 patients and reinforces the value of genetic testing for this condition."

Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol
Y Zhang et al, JAMA Cardio, January 31, 2023

From the abstract: "How do familial hypercholesterolemia (FH) genetic variants modify coronary heart disease (CHD) risk among adults with moderate (LDL-C 130-189 mg/dL) and severe (LDL-C=190 mg/dL) hypercholesterolemia? In this pooled cohort study of 21?426 participants followed up with for a median of 18 years, FH variants were associated with a 2-fold higher CHD risk, even among individuals with moderately elevated LDL-C. The increased CHD risk appeared to be largely explained by the substantially higher lifetime cumulative LDL-C exposure in those with an FH variant vs those without. The findings suggest that genetic testing for FH may help refine risk stratification beyond LDL-C alone; clinical research is needed to assess the value of adding genetic testing to traditional phenotypic FH screening. "

Dose-Response Associations of Lipid Traits With Coronary Artery Disease and Mortality.
Guoyi Yang et al. JAMA Netw Open 2024 1 (1) e2352572

From the abstract: "Do apolipoprotein B (apoB), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG) increase risk of coronary artery disease (CAD), all-cause mortality, or cause-specific mortality, and if so, what are the shapes of these associations? In this genetic association study using mendelian randomization including 347?797 participants of European ancestry from UK Biobank, genetically predicted apoB and LDL-C were positively associated with CAD, all-cause mortality, and cardiovascular mortality, all in a dose-dependent way. Genetically predicted TG was positively associated with CAD, although the presence of pleiotropy was suggested. "


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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