Shen Tianzhou, Luo Renfei, Jiang Hongdong, Bao Huihui, Jiang Long, Cheng Xiaoshu
Department of Cardiology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Jiangwan Public Health Center, Wuyuan, China.
Lipids Health Dis. 2025 Mar 27;24(1):116. doi: 10.1186/s12944-025-02514-9.
Familial hypercholesterolemia (FH) significantly amplifies the risk of developing atherosclerotic cardiovascular disease (ASCVD). This study investigated the prevalence and clinical characteristics of FH in a hypertensive rural population.
In the China H-type Hypertension Registry Study, a prospective observational cohort study with a 4-year follow-up, 14,234 hypertensive participants from rural areas were enrolled in 2018, with onsite exams conducted in 2022. FH was identified using the Chinese-modified Dutch Lipid Clinic Network criteria.
Among the 10,900 patients with hypertension, 5,675 (52.1%) were women, the median age was 65 years, the median blood pressure was 146/89 mmHg, 629 (5.8%) had previous coronary heart disease (CHD), and 4,726 (43.4%) were smokers. Among the cohort, 78 (0.72%) met the C-DLCN criteria for probable or definite FH. The rate of lipid-lowering therapy (LLT) usage in patients with FH reached 35.9%. After a median follow-up period of 1,477 days, a total of 658 deaths, 535 strokes, and 309 cardiovascular disease (CVD) events were observed. At baseline and subsequent follow-up, all patients with FH were at high or ultra/very high risk for ASCVD. During follow-up, a greater decrease in LDL-C was shown in patients with FH (FH: - 31%, 95% CI - 44.6% to -14.6%; P < 0.001) than patients without FH (2%, 95% CI: - 12.1% to 17.4%); however, only 3.6% of them achieved the recommended LDL-C targets based on ASCVD risk assessment. The risks of stroke and CVD were not significantly different between patients with and without FH after 4 years of follow-up.
This study highlights a marked gap between the high prevalence and low treatment rates of FH in rural populations with hypertension. These findings suggest the need to improve knowledge regarding FH and the need to treat this condition, especially when associated risk factors are present.
家族性高胆固醇血症（FH）显著增加了发生动脉粥样硬化性心血管疾病（ASCVD）的风险。本研究调查了高血压农村人群中FH的患病率及临床特征。
在中国H型高血压注册研究中，一项为期4年随访的前瞻性观察队列研究，2018年纳入了14234名来自农村地区的高血压参与者，并于2022年进行了现场检查。采用中国改良的荷兰脂质诊所网络标准来识别FH。
在10900例高血压患者中，5675例（52.1%）为女性，年龄中位数为65岁，血压中位数为146/89 mmHg，629例（5.8%）曾患冠心病（CHD），4726例（43.4%）为吸烟者。在该队列中，78例（0.72%）符合可能或确诊FH的C-DLCN标准。FH患者的降脂治疗（LLT）使用率达到35.9%。在中位随访期1477天后，共观察到658例死亡、535例中风和309例心血管疾病（CVD）事件。在基线及随后的随访中，所有FH患者均处于ASCVD的高风险或极高/非常高风险。在随访期间，FH患者的低密度脂蛋白胆固醇（LDL-C）下降幅度更大（FH：-31%，95%置信区间-44.6%至-14.6%；P<0.001），高于非FH患者（2%，95%置信区间：-12.1%至17.4%）；然而，根据ASCVD风险评估，他们中只有3.6%达到了推荐的LDL-C目标。随访4年后，有FH和无FH患者的中风和CVD风险无显著差异。
本研究突出了高血压农村人群中FH的高患病率与低治疗率之间的显著差距。这些发现表明需要提高对FH的认识以及治疗这种疾病的必要性，尤其是在存在相关危险因素时。
