Pontificia Universidade Catolica do Parana (PUCPR), Curitiba, Brazil.
Federal University of Rio de Janeiro (UFRJ), Rio De Janeiro, Brazil.
J Clin Lipidol. 2018 Mar-Apr;12(2):403-408. doi: 10.1016/j.jacl.2017.12.009. Epub 2017 Dec 28.
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with an estimated worldwide prevalence ranging from 1 in 200 individuals to 1 in 500 individuals in its heterozygous form. Individuals with FH exhibit high low-density lipoprotein cholesterol (LDLc) levels from birth, which leads to premature cardiovascular events. In Brazil, like in most countries around the world, FH is considered a public health problem but remains underdiagnosed and undertreated.
The aim of this study was to evaluate the prevalence of LDLc or non-high-density lipoprotein cholesterol (non-HDLc) levels suggestive of FH among Brazilian adolescents.
The Study of Cardiovascular Risk in Adolescents (ERICA) was a nationwide, school-based, cross-sectional study that assessed the prevalence of cardiovascular risk factors in approximately 75,000 adolescents between 12 and 17 years old. Data were analyzed according to sex, age, type of school (public or private), and geographic regions of Brazil. Adolescents with untreated fasting LDLc levels of 160 mg/dL or higher or non-HDLc levels of 190 mg/dL or higher were suspected to have FH. We also evaluated the prevalence of LDLc levels of 190 mg/dL or higher, which is highly suggestive of a diagnosis of FH in this age group.
A total of 38,069 adolescents were evaluated; more than half (59.9%) were female and most (74%) attended public schools. The prevalence of LDLc levels of 160 mg/dL or higher or non-HDLc levels of 190 mg/dL or higher among the adolescents was 0.49% (95% confidence interval: 0.34-0.71; n = 209). Moreover, 0.12% of the adolescents (95% confidence interval: 0.04-0.34; n = 44) had LDLc levels of 190 mg/dL or higher. We estimate that approximately 100,000 (1 in 200) Brazilian adolescents aged 12 to 17 years are suspected to have FH on the basis of LDLc and non-HDLc levels.
We identified a significant prevalence of cholesterol levels suggestive of FH among Brazilian adolescents. Further evaluation is needed to confirm the diagnoses among the students. Our results reinforce the importance of universal screening as a critical tool for early diagnosis and treatment of FH.
家族性高胆固醇血症（FH）是一种常染色体显性遗传疾病，杂合子形式在全球的患病率估计为每 200 至 500 人中就有 1 人患病。FH 患者从出生起就表现出低密度脂蛋白胆固醇（LDLc）水平升高，这导致早发性心血管事件。在巴西，与世界上大多数国家一样，FH 被认为是一个公共卫生问题，但仍未得到充分诊断和治疗。
本研究旨在评估巴西青少年中 LDLc 或非高密度脂蛋白胆固醇（non-HDLc）水平升高提示 FH 的患病率。
青少年心血管风险研究（ERICA）是一项全国性的、基于学校的、横断面研究，评估了大约 75000 名 12 至 17 岁青少年心血管危险因素的患病率。数据分析根据性别、年龄、学校类型（公立或私立）和巴西地理区域进行。未治疗的空腹 LDLc 水平为 160mg/dL 或更高或 non-HDLc 水平为 190mg/dL 或更高的青少年被怀疑患有 FH。我们还评估了 LDLc 水平为 190mg/dL 或更高的患病率，这在该年龄组中高度提示 FH 诊断。
共评估了 38069 名青少年，其中一半以上（59.9%）为女性，大多数（74%）就读于公立学校。青少年 LDLc 水平为 160mg/dL 或更高或 non-HDLc 水平为 190mg/dL 或更高的患病率为 0.49%（95%置信区间：0.34-0.71；n=209）。此外，0.12%的青少年（95%置信区间：0.04-0.34；n=44）的 LDLc 水平为 190mg/dL 或更高。我们估计，根据 LDLc 和 non-HDLc 水平，大约有 10 万名（1 比 200）12 至 17 岁的巴西青少年可能患有 FH。
我们发现巴西青少年中胆固醇水平升高提示 FH 的患病率较高。需要进一步评估以确认学生的诊断。我们的结果强调了普遍筛查作为早期诊断和治疗 FH 的关键工具的重要性。
