Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia

We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholes-terolemia (HoFH) in Saudi Arabia. This is a retrospective and prospective, single center study which included 37 patients 14 years and older enrolled and followed up between 2018-2021 for three years. 46% were females, 78% were offspring of consan-guineous marriage. LDLR mutation was in 78% and LDL-C/LDL-RAP in 3% of patients. Mean LDL-C at the first presentation was 14.2 +/- 3.7 mmol/L, average Dutch lipid score was 20.9 +/- 6.24. LDL apheresis was performed on 70% of patients. Most patients were on ezetimibe (92%), high-dose statins (84%) and PCSK9 inhibitors (32%); 48.6% had aortic stenosis, out of which 30% had severe aortic stenosis. Ten underwent aortic valve surgery (5 mechanical valve, 3 Ross procedure, 1 aortic valve repair, 1 bio-prosthetic valve) and one had transcatheter aortic valve implanta-tion (TAVI). Coronary artery bypass surgery (CABG) was per-formed on 32% and percutaneous intervention (PCI) on 11% of patients. HoFH patients have complex diseases with high morbid-ity and mortality, and benefit from a highly specialized multidis-ciplinary clinic to address their clinical needs. Although there are several therapeutic agents on the horizon, early diagnosis, and treatment of HoFH remain critical to optimize patient outcomes.