{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:14:21Z","timestamp":1791558861882,"version":"4.3.4"},"reference-count":84,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,17]],"date-time":"2022-11-17T00:00:00Z","timestamp":1668643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually an autosomal dominant disorder and is caused by inherited mutations in the APOB, LDLR, and PCSK9 genes. Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. The incidence of heterozygous FH is 1: 200\u2013250, whereas that of homozygous FH is 1: 100.000\u2013160.000. Unfortunately, FH is often diagnosed too late and after the occurrence of a major coronary event. FH may be suspected in patients with elevated blood low-density lipoprotein cholesterol (LDL-C) levels. Moreover, there are other criteria that help to diagnose FH. For instance, the Dutch Lipid Clinical Criteria are a helpful diagnostic tool that is used to diagnose FH. FH often leads to the development of early cardiovascular disease and increases the risk of sudden cardiac death. Therefore, early diagnosis and treatment of this disease is very important. Statins, ezetimibe, bile acid sequestrants, niacin, PCSK9 inhibitors (evolocumab and alirocumab), small-interfering-RNA-based therapeutics (inclisiran), lomitapide, mipomersen, and LDL apheresis are several of the available treatment possibilities that lower LDL-C levels. It is important to say that the timeous lowering of LDL-C levels can reduce the risk of cardiovascular events and mortality in patients with FH. Therefore, it is essential to increase awareness of FH in order to reduce the burden of acute coronary syndrome (ACS).<\/jats:p>","DOI":"10.3390\/medicina58111665","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T03:31:10Z","timestamp":1668742270000},"page":"1665","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis"],"prefix":"10.3390","volume":"58","author":[{"given":"Kristina","family":"Zubielien\u0117","sequence":"first","affiliation":[{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania"},{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Hospital, LT-45130 Kaunas, Lithuania"},{"name":"Kaunas Region Society of Cardiology, LT-44307, Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gintar\u0117","family":"Valteryt\u0117","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Jonaitien\u0117","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8797-999X","authenticated-orcid":false,"given":"Diana","family":"\u017daliaduonyt\u0117","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania"},{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Hospital, LT-45130 Kaunas, Lithuania"},{"name":"Kaunas Region Society of Cardiology, LT-44307, Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vytautas","family":"Zabiela","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Lithuanian University of Health Sciences Kaunas Clinics, LT-50161 Kaunas, Lithuania"},{"name":"Kaunas Region Society of Cardiology, LT-44307, Kaunas, Lithuania"},{"name":"Institute of Cardiology Kaunas, Cardiology Research Automation Laboratory, Lithuanian University of Health Sciences, LT-44307 Kaunas, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.atherosclerosis.2016.03.016","article-title":"Total Cholesterol as A Risk Factor for Coronary Heart Disease and Stroke in Women Compared with Men: A Systematic Review and Meta-Analysis","volume":"248","author":"Peters","year":"2016","journal-title":"Atherosclerosis"},{"key":"ref_2","first-page":"154","article-title":"Cholesterol and cardiovascular disease in the elderly","volume":"4","author":"Grau","year":"2013","journal-title":"Facts Gaps. 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