{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:50:51Z","timestamp":1787028651850,"version":"build-2736575974"},"reference-count":53,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,22]],"date-time":"2024-09-22T00:00:00Z","timestamp":1726963200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by significantly elevated levels of low-density lipoprotein (LDL) cholesterol, which plays a major role in the progression of atherosclerosis and leads to a heightened risk of premature atherosclerotic cardiovascular disease. Methods: We have carried out an observational study on a group of 17 patients treated at the Outpatient Lipid Clinic from 2019 to 2024. Result: The most frequent mutation observed was found in the LDL receptor (LDLR) gene, which was identified in ten patients (58.8%). Five patients were identified to have a mutation in the apolipoprotein B (APOB) gene, whereas two patients had two points mutations, one in the LDLR, and the other in the APOB gene. The average age of patients with LDLR mutation was 54.8 (12.3); for APOB mutation it was 61.4 (9.3) and for patients with two points mutation it was 61.5 (14.8). The study results showed that at Week 12, individuals with LDLR-defective heterozygotes who were given alirocumab 150 mg every two weeks experienced a 63.0% reduction in LDL cholesterol levels. On the other hand, individuals with APOB heterozygotes experienced a 59% reduction in LDL cholesterol levels. However, in patients with double heterozygous for mutations in LDLR and APOB genes, there was a hyporesponsiveness to alirocumab, and the reduction in LDL-C was only by 23% in two individuals. Conclusions: In patients with a single mutation, there was a greater response to treatment with alirocumab in contrast to patients with double heterozygous mutation, who did not respond to treatment with PCSK9 inhibitors.<\/jats:p>","DOI":"10.3390\/jcm13185615","type":"journal-article","created":{"date-parts":[[2024,9,24]],"date-time":"2024-09-24T08:56:06Z","timestamp":1727168166000},"page":"5615","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Gene Mutation in Patients with Familial Hypercholesterolemia and Response to Alirocumab Treatment\u2014A Single-Centre Analysis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1620-1969","authenticated-orcid":false,"given":"Joanna","family":"Rogozik","sequence":"first","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3820-4378","authenticated-orcid":false,"given":"Jakub Kosma","family":"Rokicki","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"},{"name":"Department of Medical Informatics and Telemedicine, Medical University of Warsaw, 00-581 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3306-0301","authenticated-orcid":false,"given":"Marcin","family":"Grabowski","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"G\u0142\u00f3wczy\u0144ska","sequence":"additional","affiliation":[{"name":"1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1016\/j.cjca.2014.09.028","article-title":"Canadian Cardiovascular Society position statement on familial hypercholesterolemia","volume":"30","author":"Genest","year":"2014","journal-title":"Can. 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