Abstract
BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder that causes elevated LDL-C levels leading to premature cardiovascular disease but remains underdiagnosed. This study aims to determine the prevalence of FH in Pakistan using data from multiple laboratory networks and compare it with other counties of the region. METHODS: The study analyzed lipid profile data from two large laboratory networks in Pakistan, applying Make Early Diagnosis to Prevent Early Death (MEDPED) LDL-C criteria for the general population to identify FH cases. A pooled prevalence estimate of prevalence of FH in Pakistan was calculated by combining the data of studies reporting prevalence in Pakistan. A systematic review was conducted to assess FH prevalence in South and Southeast Asian countries. RESULTS: Analysis of 545,087 individuals (Median age 45 years, 58.2% males) identified 2,911 FH cases [0.55%, 95% confidence interval (CI): 0.53-0.57%), equivalent to a prevalence of 1:182. Pooled analysis with a previous Pakistani study, totaling 1,533,393 subjects, estimated the overall FH prevalence in Pakistan at 1:273 (95% CI: 0.21-0.64%). Prevalence decreased with age, being highest in the <20 years group (1:29), while no gender differences were observed. A systematic review of South and Southeast Asian countries revealed limited data, with FH prevalence estimates missing for majority of the countries of the region. CONCLUSION: This study provides an updated estimate of FH prevalence in Pakistan and highlights the scarcity of data in South and Southeast Asia.