Thajer Alexandra, Baumgartner Margot, Jorda Anselm, Hallwirth Ulrike, Lischka Julia, Greber-Platzer Susanne
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, 1090 Vienna, Austria.
Municipal Authority of the City Vienna, Municipal Department 15, Health Service of the City of Vienna, 1030 Vienna, Austria.
Children (Basel). 2022 Apr 21;9(5):590. doi: 10.3390/children9050590.
(1) Background: Familial hypercholesterolemia (FH), a most common genetic disorder, is underdiagnosed and untreated, especially in children. Individuals with heterozygous familial hypercholesterolemia mostly present without clinical symptoms and are not informed about their high risk for myocardial infarction. Early diagnosis and treatment can prevent premature atherosclerosis and cardiovascular events in patients with FH. The aim was to evaluate the detection rate of pre-school children with FH at school doctor visits in Vienna and, moreover, to examine the frequency of FH identified in the children's siblings by this type of screening. (2) Methods: The selective FH- screening was implemented at the school enrolment examinations in the public primary schools of Vienna. The study period included the school years starting in 2017 to 2020. FH was suspected if a questionnaire on hypercholesterolemia, or cardiovascular events in the family history or on the presence of xanthomas or xanthelasma, was positive. Subsequently, lipid testing was performed on pre-school children and their siblings and elevated lipid screening was defined as either positive by LDL-C ≥ 160 mg/dL and/or non-HDL-C ≥ 190 mg/dL or as borderline by LDL-C ≥ 130 mg/dL and/or non-HDL-C ≥ 160 mg/dL. (3) Results: 66,108 pre-school children participated in the school enrolment examination in 868 public elementary schools in Vienna. In 512 (4%) children, the questionnaire caused suspicion of FH. 344 families agreed their participation in the study. Out of 344 (52% male) tested pre-school children, 20 individuals (40% male) had elevated blood lipid levels with a mean LDL-C of 155 ± 29 mg/dL and a non-HDL-C of 180 ± 24 mg/dL. Out of 291 (44% male) tested siblings, 17 individuals (41% male) showed elevated lipids with a mean LDL-C of 144 ± 19 mg/dL, and a non-HDL-C of 174 ± 19 mg/dL. (4) Conclusions: Screening is the key for early diagnosis and treatment of FH. We have implemented a pre-school screening strategy in cooperation with school physicians. We could identify 20 pre-school children and 17 siblings with an elevated lipid screening test. Full implementation of FH-screening in the pre-school examination visits in Vienna would help to detect high-risk children.
（1）背景：家族性高胆固醇血症（FH）是一种最常见的遗传性疾病，诊断不足且未得到治疗，尤其是在儿童中。杂合子家族性高胆固醇血症患者大多没有临床症状，也未被告知其心肌梗死的高风险。早期诊断和治疗可预防FH患者过早发生动脉粥样硬化和心血管事件。目的是评估维也纳在校医访视中FH学龄前儿童的检出率，此外，检查通过此类筛查在儿童兄弟姐妹中发现FH的频率。（2）方法：在维也纳公立小学入学考试时进行选择性FH筛查。研究期包括2017年至2020年开始的学年。如果关于高胆固醇血症、家族史中心血管事件或存在黄瘤或睑黄瘤的问卷呈阳性，则怀疑为FH。随后，对学龄前儿童及其兄弟姐妹进行血脂检测，血脂筛查升高定义为LDL-C≥160mg/dL和/或非HDL-C≥190mg/dL为阳性，或LDL-C≥130mg/dL和/或非HDL-C≥160mg/dL为临界值。（3）结果：66108名学龄前儿童参加了维也纳868所公立小学的入学考试。在512名（4%）儿童中，问卷引发了对FH的怀疑。344个家庭同意参与研究。在344名（52%为男性）接受检测的学龄前儿童中，20名个体（40%为男性）血脂水平升高，平均LDL-C为155±29mg/dL，非HDL-C为180±24mg/dL。在291名（44%为男性）接受检测的兄弟姐妹中，17名个体（41%为男性）血脂升高，平均LDL-C为144±19mg/dL，非HDL-C为174±19mg/dL。（4）结论：筛查是FH早期诊断和治疗的关键。我们与校医合作实施了一项学龄前筛查策略。我们能够识别出20名学龄前儿童和17名兄弟姐妹血脂筛查检测结果升高。在维也纳的学龄前检查访视中全面实施FH筛查将有助于发现高危儿童。
