Clinical profile of familial hypercholesterolemia phenotype in adults attended in primary care in a large healthcare area.

IF 4.9 2区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Atherosclerosis Pub Date : 2025-06-04 DOI:10.1016/j.atherosclerosis.2025.120400

Teresa Gijón-Conde, José R Banegas, Carolina Ferré Sánchez, Rodrigo Alonso, Pedro Mata

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引用次数: 0

Abstract

Background and aims: To examine the clinical profile and associated clinical characteristics of heterozygous Familial Hypercholesterolemia clinical phenotype (FH) in adults attended in primary care in a large health area of the Community of Madrid, Spain.

Methods: Cross-sectional, multicenter study including 156,082 adults (≥18 years) from 69 health centers with at least one lipid profile between 2018 and 2021, using electronic health records (EHR). Severe hypercholesterolemia (SH) was defined as total cholesterol ≥300 mg/dL or LDL-cholesterol≥220 mg/dL and FH phenotype was defined as LDL-C ≥240 mg/dL (≥90th percentile within our study sample) or ≥160 mg/dL under lipid-lowering therapy (LLT), with triglycerides <200 mg/dL and normal TSH levels. Multivariate logistic regression was used to assess clinical associations.

Results: SH was present in 6187 individuals (3.96 %), and FH phenotype in 1600 (1.03 %; mean age 60.7 years; 72.7 % women). Compared with non-FH individuals, those with FH were more often female, on LLT (97.6 % vs. 79.0 %), and had lower prevalence of diabetes, hypertension, and obesity (all p < 0.005). Women with FH were more frequently treated but less often with high/very-high intensity LLT than men (25.3 % vs. 36.6 %; p < 0.001). All treated FH patients had LDL-C >130 mg/dL (vs. 60.4 % in non-FH), with higher levels in men (178.7 vs. 170.9 mg/dL; p = 0.0015). Female sex and LLT were independently associated with FH phenotype, while age, diabetes, hypertension, and obesity were inversely associated (all p < 0.05).

Conclusions: FH phenotype was identified in 1.03 %, of primary care patients. Women were more often treated but less likely to receive high-intensity or combined therapy compared to men. LDL-C levels were higher in men and intensive therapy reduced sex differences. LDL-C targets were largely unmet. EHR may aid early identification and improve preventive strategies.

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家族性高胆固醇血症表型在成人参加初级保健在一个大的医疗保健地区的临床概况。

背景和目的：研究西班牙马德里社区大卫生区接受初级保健的成人杂合子家族性高胆固醇血症临床表型（FH）的临床概况和相关临床特征。方法：采用电子健康记录（EHR），横断面、多中心研究，包括来自69个健康中心的156,082名成年人（≥18岁），他们在2018年至2021年间至少有一种血脂。严重高胆固醇血症（SH）定义为总胆固醇≥300 mg/dL或低密度脂蛋白胆固醇≥220 mg/dL， FH表型定义为LDL-C≥240 mg/dL（≥我们研究样本中的第90百分位数）或≥160 mg/dL，并伴有甘油三酯。结果：6187人（3.96%）存在SH， 1600人（1.03%）存在FH表型；平均年龄60.7岁；72.7%为女性)。与非FH个体相比，FH患者多为女性，在LLT上（97.6%对79.0%），糖尿病、高血压和肥胖的患病率较低(p均为130 mg/dL（非FH为60.4%），男性较高(178.7对170.9 mg/dL；p = 0.0015)。女性性别和LLT与FH表型独立相关，而年龄、糖尿病、高血压和肥胖与FH表型负相关（均为p）。结论：1.03%的初级保健患者存在FH表型。与男性相比，女性更常接受治疗，但接受高强度或联合治疗的可能性更小。男性的LDL-C水平较高，强化治疗减少了性别差异。LDL-C指标基本上没有达到。电子病历有助于早期识别和改进预防策略。

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来源期刊

Atherosclerosis 医学-外周血管病

CiteScore

9.80

自引率

3.80%

发文量

1269

审稿时长

36 days

期刊介绍： Atherosclerosis has an open access mirror journal Atherosclerosis: X, sharing the same aims and scope, editorial team, submission system and rigorous peer review. Atherosclerosis brings together, from all sources, papers concerned with investigation on atherosclerosis, its risk factors and clinical manifestations. Atherosclerosis covers basic and translational, clinical and population research approaches to arterial and vascular biology and disease, as well as their risk factors including: disturbances of lipid and lipoprotein metabolism, diabetes and hypertension, thrombosis, and inflammation. The Editors are interested in original or review papers dealing with the pathogenesis, environmental, genetic and epigenetic basis, diagnosis or treatment of atherosclerosis and related diseases as well as their risk factors.