1. 92.4% of children in high-income countries had heterozygous familial hypercholesterolemia compared to 48.0% in non-high-income countries. 2. The majority of patients with confirmed heterozygous familial hypercholesterolemia were not on any lipid-lowering medication. Evidence Rating Level: 2 (Good) Study Rundown: Familial hypercholesterolemia affects more than 450,000 children worldwide each year, yet only a small proportion
1. In a retrospective cohort study, the distribution of low density lipoprotein cholesterol (LDL-C) and apolipoprotein B (ApoB) levels obtained from dried blood spots of newborns may be useful for newborn screening of familial hypercholesterolemia. 2. Total cholesterol, LDL-C, and ApoB were observed in highest concentrations during winter months. Evidence Rating Level: 2 (Good) Study
1. In this decision analysis model, population screening for three common hereditary conditions was cost-effective in adults younger than 40. 2. Population genomic screening was particularly cost-effective if probands had access to preventative care. Evidence Rating Level: 1 (Excellent) Study Rundown: Population genomic screening for Lynch Syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC),