Familial Hypercholesterolaemia Patients with LDLR Mutation Among Asian Population in Southeast Asian Countries: Systematic Review

• Published in: Scientific Journal of King Faisal University Basic and Applied Sciences
• Main Author: Shahuri N.S.; Kasim N.A.M.; Nawawi H.M.; Chua Y.-A.; Al-Khateeb A.; Kadir S.H.S.A.
• Format: Review
• Language: English
• Published: King Faisal University 2024
• Online Access: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85215436190&doi=10.37575%2fb%2fmed%2f240022&partnerID=40&md5=2e136b636ab229b02852215e675a8d7b

Familial hypercholesterolaemia (FH) is a genetic disorder associated with premature cardiovascular diseases; however, the majority of patients remain undertreated. This systematic review aimed to determine the prevalence of FH patients with low-density lipoprotein receptor (LDLR)gene pathogenic variants (PV) among the Asian population in Southeast Asian countries. Our search yielded 1,120 citations, with 28 deemed possibly suitable based on title and abstract screening. However, only six studies that utilised the Dutch Lipid Clinic Network (DLCN) or Simon Broome (SB) criteria were eligible to be included. These studies provided prevalence figures for clinically diagnosed FH patients, with a total of 17.1% (n=1,005/5,874); this rate was represented by three Malaysian studies, which estimated that 36–76% of clinically diagnosed FH patients had LDLR PV. Most patients reported having pre-existing cardiovascular disease, a family history of premature coronary artery disease and tendon xanthomata. This study found that the prevalence of LDLR PV among genetically confirmed FH patients in Southeast Asia is 20.5% (n=286/5,874). Genetically confirmed FH patients are at a higher risk of developing premature coronary artery disease, requiring more aggressive lipid-lowering treatment. Therefore, identifyingLDLR PV among the population is essential for early FH diagnosis and treatment. © (2024), (King Faisal University). All Rights Reserved.