Abstract
BACKGROUND: Despite the World Health Organization's prioritization of familial hypercholesterolemia (FH), its global diagnostic rate remains critically low, leading to inadequate treatment and control, thereby increasing the risk of atherosclerotic cardiovascular disease. This study aimed to investigate the comorbidity burden of FH in China and analyze the differences between familial and general hypercholesterolemia (HC) populations. METHODS: Using a national medical insurance database from 2013 to 2017 including 13,976 patients with FH and 13,976 matched control patients with HC, we utilized case-control methods to compare the composition ratio, comorbidity rates, medical expenses, and healthcare burden of patients with FH to those of control patients. RESULTS: The FH population had a higher comorbidity rate of more than one cardiometabolic disease (83.7% [11,697/13,976]) compared to the HC group (70.3% [9279/13,976]; χ² = 250.45, p < 0.0001). The rates of coronary heart disease, hypertension, stroke, and diabetes were higher in patients with FH (39.2% [5475/13,976], 71.0% [9925/13,976], 14.2% [1982/13,976], and 31.2% [4363/13,976], respectively) compared to those in the HC group (30.4% [4255/13,976], 61.4% [8587/13,976], 11.5% [1601/13,976], and 28.1% [3923/13,976], respectively; all p < 0.0001). In the 40-49 age group, patients with FH had a significantly higher average number of comorbidities compared to control patients with HC (1.2 vs. 0.9; t = 15.67, p < 0.0001). Notably, the comorbidity count in patients with FH aged 40-49 years even exceeded that in patients with HC aged 50-59 years. Furthermore, the annual per capita medical cost for patients with FH was significantly higher at 5045.5 Chinese yuan (CNY) compared to 4184.7 CNY for patients with HC (t = 12.54, p < 0.0001). CONCLUSION: With a large number of patients with dyslipidemia, the type and number of comorbidities significantly impact the healthcare burden. FH presents with earlier onset, more comorbidities, and heavier cardiovascular-related medical burdens than HC. Early identification, intervention, and comprehensive management of comorbidities in the FH population are crucial for neuroprotection and prevention of atherosclerotic cardiovascular disease.