Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia
| Autor: | Naji Kholaif, Tahir I. Mohamed, Ibrahim S. Alharbi, Sumayah A. Aljenedil, Hind AlHumaidan, Abdullah Al-Ashwal, Abdulraof Almahfouz, Shahd Algorashi, Ali Almasood, Omar J. Baqal |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Monaldi Archives for Chest Disease (2023) |
| Druh dokumentu: | article |
| ISSN: | 1122-0643 2532-5264 |
| DOI: | 10.4081/monaldi.2023.2503 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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