| Autor: |
Rogozik J; 1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland., Rokicki JK; 1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland.; Department of Medical Informatics and Telemedicine, Medical University of Warsaw, 00-581 Warsaw, Poland., Grabowski M; 1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland., Główczyńska R; 1st Department of Cardiology, Medical University of Warsaw, 02-097 Warsaw, Poland. |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of clinical medicine [J Clin Med] 2024 Sep 22; Vol. 13 (18). Date of Electronic Publication: 2024 Sep 22. |
| DOI: |
10.3390/jcm13185615 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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