{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T21:50:20Z","timestamp":1784325020739,"version":"3.55.0"},"reference-count":46,"publisher":"PAGEPress Publications","license":[{"start":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T00:00:00Z","timestamp":1675296000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Monaldi Arch Chest Dis"],"abstract":"<jats:p>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\u00b13.7 mmol\/L, average Dutch lipid score was 20.9\u00b16.24. LDL apheresis was performed on 70% of patients. Most patients were on ezetimibe (92%), high-dose statins ( 84%) and\u00a0 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.\u00a0<\/jats:p>","DOI":"10.4081\/monaldi.2023.2503","type":"journal-article","created":{"date-parts":[[2023,2,2]],"date-time":"2023-02-02T13:29:17Z","timestamp":1675344557000},"source":"Crossref","is-referenced-by-count":5,"title":["Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia"],"prefix":"10.4081","author":[{"given":"Naji","family":"Kholaif","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9040-6546","authenticated-orcid":false,"given":"Tahir I.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim S.","family":"Alharbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7101-3410","authenticated-orcid":false,"given":"Sumayah A.","family":"Aljenedil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hind","family":"AlHumaidan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Al-Ashwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulraof","family":"Almahfouz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahd","family":"Algorashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7854-7984","authenticated-orcid":false,"given":"Ali","family":"Almasood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar J.","family":"Baqal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2549","published-online":{"date-parts":[[2023,2,2]]},"reference":[{"key":"24507","unstructured":"Wilemon KA, Patel J, Aguilar-Salinas C, et al. Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action. JAMA Cardiol 2020:5:217-29."},{"key":"24508","unstructured":"Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013;34:3478-90a."},{"key":"24509","unstructured":"Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. pp. 2863-2913."},{"key":"24510","doi-asserted-by":"crossref","unstructured":"Stock J. First insights from the EAS familial hypercholesterolaemia collaboration registry: FH is still underdiagnosed and undertreated. Atherosclerosis 2019;290:138-9.","DOI":"10.1016\/j.atherosclerosis.2019.09.015"},{"key":"24511","unstructured":"Al-Nozha MM, Arafah MR, Al-Maatouq MA, et al. Hyperlipidemia in Saudi Arabia. Saudi Med J 2008;29:282-7."},{"key":"24512","doi-asserted-by":"crossref","unstructured":"Basulaiman M, El Bcheraoui C, Tuffaha M, et al. Hypercholesterolemia and its associated risk factors - Kingdom of Saudi Arabia, 2013. Ann Epidemiol 2014;24:801\u20138.","DOI":"10.1016\/j.annepidem.2014.08.001"},{"key":"24513","doi-asserted-by":"crossref","unstructured":"Alasnag M, Awan Z, Al Ghamdi A, et al. Improvement initiative in LDL-C management in Saudi Arabia: a call of action. Int J Cardiol Heart Vasc 2020;31:100667.","DOI":"10.1016\/j.ijcha.2020.100667"},{"key":"24514","doi-asserted-by":"crossref","unstructured":"Alsheikh-Ali AA, Omar MI, Raal FJ, et al. Cardiovascular risk factor burden in Africa and the Middle East: the Africa Middle East Cardiovascular Epidemiological (ACE) study. PLoS One 2014;9:e102830.","DOI":"10.1371\/journal.pone.0102830"},{"key":"24515","doi-asserted-by":"crossref","unstructured":"Alhabib KF, Al-Rasadi K, Almigbal TH, et al. Familial hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry. PLoS One 2021;16:e0251560.","DOI":"10.1371\/journal.pone.0251560"},{"key":"24516","doi-asserted-by":"crossref","unstructured":"Al-Ashwal A, Alnouri F, Sabbour H, et al. Identification and treatment of patients with homozygous familial hypercholesterolaemia: information and recommendations from a middle east advisory panel. Curr Vasc Pharmacol 2015;13:759-70.","DOI":"10.2174\/1570161113666150827125040"},{"key":"24517","doi-asserted-by":"crossref","unstructured":"Al-Allaf FA, Alashwal A, Abduljaleel Z, et al. Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children. Genomics 2016;107:24-32.","DOI":"10.1016\/j.ygeno.2015.12.001"},{"key":"24518","doi-asserted-by":"crossref","unstructured":"Kolansky DM, Cuchel M, Clark BJ, et al. Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia. Am J Cardiol 2008;102:1438-43.","DOI":"10.1016\/j.amjcard.2008.07.035"},{"key":"24519","doi-asserted-by":"crossref","unstructured":"Alonso R, Mata N, Castillo S, et al. Spanish familial hypercholesterolaemia group cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis 2008;200:315-21.","DOI":"10.1016\/j.atherosclerosis.2007.12.024"},{"key":"24520","doi-asserted-by":"crossref","unstructured":"Al-Rasadi K, Alhabib KF, Al-Allaf F, et al. The Gulf familial hypercholesterolemia registry (Gulf FH): design, rationale and preliminary results. 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Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med 2008;46:791-803.","DOI":"10.1515\/CCLM.2008.135"},{"key":"24537","doi-asserted-by":"crossref","unstructured":"Wang A, Richhariya A, Gandra SR, et al. Systematic review of low\u2010density lipoprotein cholesterol apheresis for the treatment of familial hypercholesterolemia. J Am Heart Assoc 2016;5:e003294.","DOI":"10.1161\/JAHA.116.003294"},{"key":"24538","doi-asserted-by":"crossref","unstructured":"Hohenstein B, Tselmin S, Bornstein SR, et al. How effectively will PCSK9 inhibitors allow retrieval of freedom from apheresis in cardiovascular high risk patients? - Estimates form a large single center. 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