Follow-Up of Children Diagnosed with Familial Hypercholesterolemia in a National Genetic Screening Program

• Published in: The Journal of pediatrics 2012-07, Vol.161 (1), p.99-103
• Main Authors: Avis, Hans J., MD, Kusters, D. Meeike, MD, Vissers, Maud N., PhD, Huijgen, Roeland, MD, Janssen, Thomas H., MSc, Wiegman, Albert, MD, PhD, Kindt, Iris, MD, Kastelein, John J.P., MD, PhD, Wijburg, Frits A., MD, PhD, Hutten, Barbara A., PhD
• Format: Article
• Language: English
• Subjects: Adolescent; Biological and medical sciences; boys; cardiovascular diseases; Child; Child, Preschool; children; cholesterol; demographic statistics; Disorders of blood lipids. Hyperlipoproteinemia; drug therapy; educational status; Female; Follow-Up Studies; General aspects; Genetic Testing; Humans; hypercholesterolemia; Hypercholesterolemia - diagnosis; Hypercholesterolemia - genetics; Hypercholesterolemia - therapy; Infant; lifestyle; low density lipoprotein; Male; Medical sciences; Metabolic diseases; parents; patients; Pediatrics; physicians; Prevention and actions; Public health. Hygiene; Public health. Hygiene-occupational medicine; questionnaires; risk; screening
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2011.12.037

Objective To assess the follow-up of children diagnosed as having familial hypercholesterolemia (FH) in the nationwide DNA-based cascade screening program (the Netherlands). Study design Questionnaires covering topics such as demographics, family history, physician consultation, and treatment were sent to parents of patients with FH (age 0-18 years), 18 months after diagnosis. Results We retrieved 207 questionnaires of patients aged 10.9 ± 4.2 years (mean ± SD) at diagnosis; 48% were boys, and the mean low-density lipoprotein cholesterol (LDL-C) level at diagnosis was 167 ± 51 mg/dL. Of these patients, 164 (79%) consulted a physician: a general practitioner (35%), lipid-clinic specialist (27%), pediatrician (21%), internist (11%), or another physician (6%). LDL-C level at diagnosis and a positive family history for cardiovascular disease were independent predictors for physician consultation. Of the patients who visited a physician, 62% reported to have received lifestyle advice, and 43 (26%) were prescribed statin treatment. Independent predictors for medication use were age, LDL-C level, and educational level of parents. Conclusion The follow-up of children with FH after diagnosis established through cascade screening is inadequate. Better education of patients, parents, and physicians, with a structured follow-up after screening, should improve control of LDL-C levels and hence cardiovascular risk in children with FH.