title: Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program.
abstract: OBJECTIVE
  To assess the follow-up of children diagnosed as having familial hypercholesterolemia (FH) in the nationwide DNA-based cascade screening program (the Netherlands).
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Hans J
authors.initials: HJ
authors.lastname: Avis
authors.forename: D Meeike
authors.initials: DM
authors.lastname: Kusters
authors.forename: Maud N
authors.initials: MN
authors.lastname: Vissers
authors.forename: Roeland
authors.initials: R
authors.lastname: Huijgen
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Janssen
authors.forename: Albert
authors.initials: A
authors.lastname: Wiegman
authors.forename: Iris
authors.initials: I
authors.lastname: Kindt
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Hutten
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D007223:Infant; D008297:Male