Abstract 15812: Pediatric Familial Hypercholesterolemia: Children and Adolescents Enrolled in the CAscade SCreening for Awareness and DEtection Registry
Introduction: Familial hypercholesterolemia (FH) in US youth is not well described. CAscade SCreening for Awareness and Detection of FH (CASCADE FH) is a registry designed to address this knowledge gap.
Methods: We conducted a cross-sectional analysis of 268 children and adolescents <18 years with heterozygous FH enrolled in the CASCADE FH Registry from 9 US lipid clinics between April 2014 and February 2016.
Results: Median age at FH diagnosis was 9 yrs (interquartile range [IQR] 6,12); 50.0% were male, 70.9% White. In ~1/3rd of youth FH was diagnosed by specific criteria, e.g. MEDPED (22.8%), Simon Broome (10.8%), more than one criteria (1.9%); most were diagnosed clinically (57.8%). Only 2 (0.7%) patients had a confirmed genetic mutation. While 22.8% had a family history of premature MI, no youth experienced cardiovascular events. Some youth with FH had additional cardiovascular risk factors, with low HDL-C (29.1%) and obesity (14.9%) being relatively common, followed by hypertension (2.2%) and diabetes (0.7%); 9.0% had ≥2 additional risk factors. A majority (59.3%) of the cohort was treated with a lipid-lowering therapy (LLT), mostly commonly statins (48.9%). Children ≥10 years were more likely than younger patients to receive LLT (68.3% vs. 31.8%, p<0.0001). Median age at LLT initiation was 11 years (range 0-17). The mean reported highest untreated LDL-C level was 233 mg/dL (IQR 195,277), n=255; while the average LDL-C on treatment was 175 mg/dl (140-211). Of the FH youth on LLT, 18.9% had an LDL <130 mg/dL and 13.2% had an LDL-C ≥50% lower than their maximum untreated level; 23.9% met one or the other LDL-C goal.
Conclusions: Among youth enrolled in the CASCADE FH registry, just over half reported being on LLT, with higher rates of pharmacotherapy reported in older children. Despite this, less than a quarter of youth achieved sufficient LDL-C lowering. Opportunities exist to optimize the treatment of youth with FH to reduce their risk of cardiovascular disease.
Author Disclosures: S.D. de Ferranti: Research Grant; Modest; PCORI, Pediatric Heart Network, New England Children’s Congenital Heart Foundation. Other; Modest; UpToDate. E.C. O’Brien: Research Grant; Modest; PCORI, Merck, Novartis, Janssen Scientific, Bristol Myers Squibb, Pfizer, NHLBI. Consultant/Advisory Board; Modest; Portola Pharmaceuticals. I. Kindt: None. S. Clauss: None. J.W. Knowles: Research Grant; Significant; Leducq Foundation, Amgen, AHA. A.L. Peterson: None. I. Benuck: None. Z.S. Ahmad: Research Grant; Modest; NIH, Regeneron. Honoraria; Modest; Genzyme, Sanofi. Consultant/Advisory Board; Modest; Genzyme. L.C. Hudgins: None. S.S. Gidding: None. D.J. Rader: Consultant/Advisory Board; Modest; Aegerion, Alnylam, Sanofi. Consultant/Advisory Board; Significant; Aegerion. M.F. Linton: Research Grant; Modest; Regeneron, Sanofi, Genzyme, ISIS, Merck. Consultant/Advisory Board; Modest; Amgen, Retrophin, Merck. C.M. Ballantyne: Research Grant; Significant; ADA, AHA, NIH, Takeda, Sanofii, Regeneron,, Pfizer, Novartis, Esperion, Amgen, Amarin, Eli Lilly. Consultant/Advisory Board; Modest; Sanofi, Regeneron, Novartis, Matinas BioPharma, Genzyme, Esperion, Eli Lilly, Amarin. Consultant/Advisory Board; Significant; Pfizer, Merck, AstraZeneca, Amgen. P.B. Duell: None. M.D. Shapiro: Research Grant; Modest; Merck, Synageva, ISIS, Amarin, Sanofi, Amgen, NIH. Consultant/Advisory Board; Modest; Synageva. M.T. Roe: None. P. Shrader: None. K. Wilemon: None. W. Neal: None.
- © 2016 by American Heart Association, Inc.