Abstract
BACKGROUND AND AIMS: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.