Abstract
To describe enrollment characteristics of youth in the Cascade Screening for Awareness and Detection of FH Registry. This is a cross-sectional analysis of 493 participants aged <18 years with heterozygous familial hypercholesterolemia recruited from us lipid clinics (n =" 20)" between april 1, 2014, and january 12, 2018. at enrollment, some were new patients and some were already in care. clinical characteristics are described, including lipid levels and lipid-lowering treatments. mean age at diagnosis was 9.4 (4.0) years; 47% female, 68% white and 12% hispanic. average (sd) highest low-density lipoprotein cholesterol (ldl-c) was 238 (61) mg dl before treatment. lipid-lowering therapy was used by 64% of participants; 56% were treated with statin. ldl-c declined 84 mg dl (33%) among those treated with lipid-lowering therapy; statins produced the greatest decline, 100 mg dl (39% reduction). at enrollment, 39% had reached an ldl-c goal, either><130 mg dl or ≥50% decrease from pre-treatment; 20% of those on lipid-lowering therapy reached both goals. among youth enrolled in the cascade screening for awareness and detection of fh registry, diagnosis occurred relatively late, only 77% of children eligible for lipid-lowering therapy were receiving treatment, and only 39% of those treated met their ldl-c goal. opportunities exist for earlier diagnosis, broader use of lipid-lowering therapy, and greater reduction of ldl-c levels. to describe enrollment characteristics of youth in the cascade screening for awareness and detection of fh registry. this is a cross-sectional analysis of 493 participants aged><18 years with heterozygous familial hypercholesterolemia recruited from us lipid clinics (n =" 20)" between april 1, 2014, and january 12, 2018. at enrollment, some were new patients and some were already in care. clinical characteristics are described, including lipid levels and lipid-lowering treatments. mean age at diagnosis was 9.4 (4.0) years; 47% female, 68% white and 12% hispanic. average (sd) highest low-density lipoprotein cholesterol (ldl-c) was 238 (61) mg dl before treatment. lipid-lowering therapy was used by 64% of participants; 56% were treated with statin. ldl-c declined 84 mg dl (33%) among those treated with lipid-lowering therapy; statins produced the greatest decline, 100 mg dl (39% reduction). at enrollment, 39% had reached an ldl-c goal, either><130 mg dl or ≥50% decrease from pre-treatment; 20% of those on lipid-lowering therapy reached both goals. among youth enrolled in the cascade screening for awareness and detection of fh registry, diagnosis occurred relatively late, only 77% of children eligible for lipid-lowering therapy were receiving treatment, and only 39% of those treated met their ldl-c goal. opportunities exist for earlier diagnosis, broader use of lipid-lowering therapy, and greater reduction of ldl-c levels.>
