Children with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE FH Registry. The Journal of pediatrics de Ferranti, S. D., Shrader, P., Linton, M. F., Knowles, J. W., Hudgins, L. C., Benuck, I., Kindt, I., O'Brien, E. C., Peterson, A. L., Ahmad, Z. S., Clauss, S., Duell, P. B., Shapiro, M. D., Wilemon, K., Gidding, S. S., Neal, W. 2020


OBJECTIVE: To describe enrollment characteristics of youth in the CAscade SCreening for Awareness and DEtection (CASCADE) Familial Hypercholesterolemia Registry.STUDY DESIGN: Cross-sectional analysis of 493 participants <18 years old with heterozygous FH recruited from US lipid clinics (n=20), between April 1, 2014 and January 12, 2018. At enrollment, some were new patients and some were in care. Clinical characteristics are described, including lipid levels and lipid lowering treatments (LLTs).RESULTS: Mean age at diagnosis was 9.4 (4.0) years; 47% female, 68% white and 12% Hispanic. Average (SD) highest LDL-C was 238 (61) mg/dL prior to treatment. Lipid lowering therapy (LLT) was used by 64% of participants; 56% were treated with statin. LDL-C declined 84 mg/dL (33%) among those treated with LLT; 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 LLT reached both goals.CONCLUSIONS: Among youth enrolled in CASCADE FH, diagnosis occurred relatively late, only 77% of children eligible for LLT were on treatment and 39% of those treated met LDL-C goals. Opportunities exist for earlier diagnosis, broader use of LLT, and greater LDL-C lowering.

View details for DOI 10.1016/j.jpeds.2020.09.042

View details for PubMedID 32976895