Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia

Figures

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  Figure 1.. Low-density lipoprotein (LDL)-lowering therapy before and after genetic screening, stratified by familial hypercholesterolemia (FH) clinical diagnosis status. FH diagnosis status was defined by the presence or absence of electronic health record documentation of a clinical diagnosis code for FH (Systematized Nomenclature of Medicine Clinical Terms 398036000 or International Classification of Diseases, Tenth Revision, Clinical Modification E78.01). A, Includes all patients. B, Includes patients without a prior FH diagnosis who had no LDL-lowering agent prescriptions in the prior year. C, Includes patients without a prior FH diagnosis who had at least 1 LDL-lowering therapy prescription in the prior year; therapeutic changes include an increase in statin dosage, switching of statin type, or initiation of a statin, ezetimibe, PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibitor, bile acid sequestrant, inclisiran, or bempedoic acid.

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  Figure 2.. New low-density lipoprotein (LDL)-lowering agents and therapeutic changes stratified by prescreening treatment status. PCSK9 indicates proprotein convertase subtilisin/kexin type 9.

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  Figure 3.. Rates of treatment with new or modified low-density lipoprotein (LDL)-lowering agents by month since screening among patients who tested positive and negative for familial hypercholesterolemia (FH)-associated variants. Proportions of patients with new or modified therapies within each month were calculated among patients with available follow-up for the full month’s duration and without new or modified therapy already having occurred in an earlier month. LDL-C indicates low-density lipoprotein cholesterol.

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  Figure 4.. Maximum absolute and percent low-density lipoprotein cholesterol (LDL-C) reductions through up to 3 years postgenetic screening, stratified by treatment status. Patients are included if they had a baseline LDL-C result available (up to 1 year before genetic screening) and at least 1 follow-up LDL-C result. One patient with the baseline LDL-C testing date within 1 to 60 days after screening was excluded because the new treatment occurred before the baseline LDL-C testing date. Violin plots show the probability density of maximum LDL-C reductions, while overlaid box plots display the median, interquartile range (IQR), and extrema. Whiskers extend to the most extreme data points within 1.5 times the IQR from the box edges.

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  Figure 5.. Maximum absolute low-density lipoprotein cholesterol (LDL-C) reductions through up to 3 years postgenetic screening, stratified by prescreening LDL-C concentration. Patients are included if they had a baseline LDL-C result available (up to 1 year before genetic screening) and at least 1 follow-up LDL-C result. One patient with the baseline LDL-C testing date within 1 to 60 days after screening was excluded because the new treatment occurred before the baseline LDL-C testing date. Violin plots show the probability density of maximum LDL-C reductions, while overlaid box plots display the median, interquartile range (IQR), and extrema. Whiskers extend to the most extreme data points within 1.5× the IQR from the box edges.

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  Figure 6.. Achievement of low-density lipoprotein cholesterol (LDL-C) target goals through up to 3 years postgenetic screening, stratified by treatment status. Patients are included if they had a baseline LDL-C result available (up to 1 year before genetic screening) and at least 1 follow-up LDL-C result. Twenty-nine patients with prescreening LDL-C <70 mg/dL were excluded from this figure. One patient with the baseline LDL-C testing date within 1 to 60 days after screening was excluded because the new treatment occurred before the baseline LDL-C testing date. P=0.001, P<0.001, and P=0.004 for each comparison between patients with vs without new/modified therapy (top, middle, and bottom bars, respectively).