PREMATURE CORONARY ARTERY DISEASE DUE TO FAMILIAL HYPERCHOLESTROLEMIA IN A 26 YEAR FEMALE

Background:Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by lifelong elevation of low-density lipoprotein cholesterol(LDL C),leading to premature atherosclerotic cardiovascular disease.Despite being relatively common,FH remains underdiagnosed and undertreated, often presenting with advanced coronary artery disease (CAD) at a young age. Case Presentation:We report a 26-year-old woman presenting with exertional chest pain for two months.She had long standing xanthelasmas and a positive family history of premature CAD in her elder brother. On examination, xanthelasmas and corneal arcus were noted. Her lipid profile revealed total cholesterol of 697 mg/dL and LDL-C of 496 mg/dL. The Dutch Lipid Clinic Network Score was 14, confirming definite FH. Coronary angiography showed severe triple vessel disease with critical stenoses involving the left anterior descending artery, obtuse marginal branch, and right coronary artery. She was initiated on high-intensity statin therapy (rosuvastatin 40 mg) with ezetimibe and advised coronary artery bypass grafting (CABG). Despite symptomatic improvement, LDL-C levels remained markedly elevated on follow-up, necessitating consideration of bempedoic acid, PCSK9 inhibitors, and LDL apheresis. Conclusion:This case illustrates the aggressive natural history of FH, manifesting as premature CAD in a young female patient. It underscores the need for heightened clinical suspicion, early diagnosis, and initiation of intensive lipid-lowering therapy to prevent adverse cardiovascular outcomes.Family screening and newer therapeutic options, including PCSK9 inhibitors and LDL apheresis, play a pivotal role in optimizing management.