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

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• 作者：Hans J. Avis ; MD¹ ; ² ; D. Meeike Kusters ; MD¹ ; ² ; Maud N. Vissers ; PhD² ; Roeland Huijgen ; MD² ; Thomas H. Janssen ; MSc² ; Albert Wiegman ; MD ; PhD¹ ; Iris Kindt ; MD⁴ ; John J.P. Kastelein ; MD ; PhD² ; Frits A. Wijburg ; MD ; PhD¹ ; Barbara A. Hutten ; PhD³ ; ^{b.a.hutten@amc.uva.nl}
• 关键词：CVD ; Cardiovascular disease ; FH ; Familial hypercholesterolemia ; LDL-C ; Low-density lipoprotein cholesterol
• 刊名：The Journal of Pediatrics
• 出版年：2012
• 出版时间：July, 2012
• 年：2012
• 卷：161
• 期：1
• 页码：99-103
• 全文大小：156 K

文摘

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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 ¡À 4.2 years (mean ¡À SD) at diagnosis; 48 % were boys, and the mean low-density lipoprotein cholesterol (LDL-C) level at diagnosis was 167 ¡À 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.