Cystic Fibrosis in Asia: Epidemiology, Genetics, Challenges, and Future Directions

Abstract

Cystic fibrosis (CF), a multisystem autosomal recessive disorder caused by pathogenic variants in the CF transmembrane conductance regulator ( CFTR ) gene, has long been considered rare in Asia. However, growing evidence indicates that CF is substantially underrecognized across the region due to limited diagnostic capacity, absence of newborn screening programs, lack of national registries, and low clinical awareness. Asia’s marked heterogeneity in ethnicity, consanguinity patterns, and healthcare infrastructure has resulted in a wide variation in disease prevalence, genetic architecture, and clinical outcomes. This narrative review synthesizes current data on CF epidemiology, CFTR mutation spectra, clinical presentation, and diagnostic and therapeutic challenges across Asia. A relatively high disease prevalence has been reported in several Middle Eastern countries, driven largely by consanguinity and founder mutations, while South and East Asia likely harbor a significant but underdiagnosed disease burden. Asian CFTR mutation profiles differ markedly from those of Western populations, limiting the effectiveness of standard mutation panels and eligibility for currently approved CFTR modulator therapies. Delayed diagnosis remains common, contributing to early bronchiectasis, severe malnutrition, recurrent respiratory infections, and increased early mortality in low- and middle-income settings. Addressing these challenges will require region-specific diagnostic strategies, expansion of affordable sweat testing and molecular diagnostics, establishment of national registries, and inclusive development of next-generation CFTR -targeted therapies. Strengthening early detection and multidisciplinary pediatric respiratory care is essential to improving outcomes for children with CF across Asia.