Sarah D de Ferranti1, Peter Shrader2, MacRae F Linton3, Joshua W Knowles4, Lisa C Hudgins5, Irwin Benuck6, Iris Kindt7, Emily C O'Brien2, Amy L Peterson8, Zahid S Ahmad9, Sarah Clauss10, P Barton Duell11, Michael D Shapiro11, Katherine Wilemon7, Samuel S Gidding7, William Neal12. 1. Department of Cardiology, Boston Children's Hospital, Boston, MA. Electronic address: Sarah.deferranti@cardio.chboston.org. 2. Duke Clinical Research Institute, Durham, NC. 3. Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN. 4. Department of Medicine, Stanford University Medical Center, Palo Alto, CA. 5. Rogosin Institute and Weill Cornell Medical College, New York, NY. 6. Department of Pediatrics, Feinberg School of Medicine, Chicago, IL. 7. The FH Foundation, Pasadena, CA. 8. Department of Pediatrics, University of Wisconsin, Madison, WI. 9. Department of Medicine, University of Texas Southwestern, Dallas, TX. 10. Department of Cardiology, Children's National Medical Center, Washington, DC. 11. Department of Medicine, Wake Forest Baptist Health, Winston-Salem, NC. 12. Department of Pediatrics, West Virginia University, Morgantown, WV.
Abstract
OBJECTIVE: To describe enrollment characteristics of youth in the Cascade Screening for Awareness and Detection of FH Registry. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVE: To describe enrollment characteristics of youth in the Cascade Screening for Awareness and Detection of FH Registry. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: Marta Gazzotti; Manuela Casula; Stefano Bertolini; Maria Elena Capra; Elena Olmastroni; Alberico Luigi Catapano; Cristina Pederiva Journal: Front Genet Date: 2022-06-20 Impact factor: 4.772