| Autor: |
Kholaif N; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. nalkholaif83@kfshrc.edu.sa., Mohamed TI; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh. tmohamed@kfshrc.edu.sa., Alharbi IS; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. iaalharbi@kfshrc.edu.sa., Aljenedil SA; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. saljenedil@kfshrc.edu.sa., AlHumaidan H; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. hahumaidan@kfshrc.edu.sa., Al-Ashwal A; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. alashwal@kfshrc.edu.sa., Almahfouz A; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. amahfouz@kfshrc.edu.sa., Algorashi S; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. f1508522@kfshrc.edu.sa., Almasood A; Heart Center Department, King Faisal Specialist Hospital and Research Center, Riyadh; Department of Medicine, Alfaisal University College of Medicine, Riyadh. aalmasood@kfshrc.edu.sa., Baqal OJ; Department of Medicine, Mayo Clinic Arizona, Phoenix, AZ. ojbaqal@gmail.com. |
| Abstrakt: |
We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (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 consanguineous marriage. LDLR mutation was in 78% and LDL-C/LDLRAP 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 bioprosthetic valve) and one had transcatheter aortic valve implantation (TAVI). Coronary artery bypass surgery (CABG) was performed on 32% and percutaneous intervention (PCI) on 11% of patients. HoFH patients have complex diseases with high morbidity and mortality, and benefit from a highly specialized multidisciplinary 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. |
