Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program.
J Pediatr
; 161(1): 99-103, 2012 Jul.
Article
em En
| MEDLINE
| ID: mdl-22284919
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). STUDYDESIGN:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
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Hipercolesterolemia
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
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Qualitative_research
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Risk_factors_studies
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Screening_studies
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article