Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia
Aim. To assess the detection rate of familial hypercholesterolemia among outpatients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows: 1233 people aged 18-84, including 777 women (63,0...
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«FIRMA «SILICEA» LLC
2023-03-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/5275 |
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| author | Z. F. Kim A. S. Galyavich D. I. Sadykova L. M. Nurieva |
| author_facet | Z. F. Kim A. S. Galyavich D. I. Sadykova L. M. Nurieva |
| author_sort | Z. F. Kim |
| collection | DOAJ |
| description | Aim. To assess the detection rate of familial hypercholesterolemia among outpatients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows: 1233 people aged 18-84, including 777 women (63,02%) and 456 men (36,98%). Biomaterial samples from 421 patients with the phenotype of definite, possible or probable familial hypercholesterolemia were studied by massive parallel sequencing using a panel of 5 genes associated with familial hypercholesterolemia (LDLR, LDLRAP1, APOB, APOE, PCSK9). For statistical processing, descriptive statistics methods were used.Results. Working-age patients apply 1,56 times more often than patients of the older age group (60,91% vs 39,09%), and the vast majority of them were referred by a primary care physician based on data from periodic health examinations. The mean level of total cholesterol and low-density lipoprotein cholesterol in the lipidology center was 7,58 and 4,8, respectively. Out of 421 samples, 127 patients (10,3% of the total number of patients and 30,16% of the number of biosamples) had previously described variants of the LDLR, APOB and/or PCSK9 genes associated with familial hypercholesterolemia.Conclusion. The detection rate of definite familial hypercholesterolemia ranges from 5,51 to 8,43% of outpatients visiting a lipidologist, while the proportion of verified carriers of gene mutations related to familial hypercholesterolemia is 10,3%. The diagnosis should not be rejected with a formally low probability according to the S. Broom and DLCN criteria, as well as when identifying data suggestive of secondary lipid metabolism disorders. |
| format | Article |
| id | doaj-art-b2abc460fc6040e8b41d7cf509f1272f |
| institution | DOAJ |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| publishDate | 2023-03-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj-art-b2abc460fc6040e8b41d7cf509f1272f2025-08-20T03:21:31Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202023-03-0128210.15829/1560-4071-2023-52753746Possibilities of lipid clinics in identifying patients with familial hypercholesterolemiaZ. F. Kim0A. S. Galyavich1D. I. Sadykova2L. M. Nurieva3Kazan State Medical University; City Clinical Hospital № 7Kazan State Medical UniversityKazan State Medical University; Children’s Republican Clinical HospitalCity Clinical Hospital № 7Aim. To assess the detection rate of familial hypercholesterolemia among outpatients visiting a lipidologist.Material and methods. We analyzed the causes and nature of lipid metabolism disorders in patients of the Adult Lipidology Center as follows: 1233 people aged 18-84, including 777 women (63,02%) and 456 men (36,98%). Biomaterial samples from 421 patients with the phenotype of definite, possible or probable familial hypercholesterolemia were studied by massive parallel sequencing using a panel of 5 genes associated with familial hypercholesterolemia (LDLR, LDLRAP1, APOB, APOE, PCSK9). For statistical processing, descriptive statistics methods were used.Results. Working-age patients apply 1,56 times more often than patients of the older age group (60,91% vs 39,09%), and the vast majority of them were referred by a primary care physician based on data from periodic health examinations. The mean level of total cholesterol and low-density lipoprotein cholesterol in the lipidology center was 7,58 and 4,8, respectively. Out of 421 samples, 127 patients (10,3% of the total number of patients and 30,16% of the number of biosamples) had previously described variants of the LDLR, APOB and/or PCSK9 genes associated with familial hypercholesterolemia.Conclusion. The detection rate of definite familial hypercholesterolemia ranges from 5,51 to 8,43% of outpatients visiting a lipidologist, while the proportion of verified carriers of gene mutations related to familial hypercholesterolemia is 10,3%. The diagnosis should not be rejected with a formally low probability according to the S. Broom and DLCN criteria, as well as when identifying data suggestive of secondary lipid metabolism disorders.https://russjcardiol.elpub.ru/jour/article/view/5275lipid metabolism disordersfamilial hypercholesterolemiatotal cholesterolgene mutationslipid center |
| spellingShingle | Z. F. Kim A. S. Galyavich D. I. Sadykova L. M. Nurieva Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia Российский кардиологический журнал lipid metabolism disorders familial hypercholesterolemia total cholesterol gene mutations lipid center |
| title | Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia |
| title_full | Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia |
| title_fullStr | Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia |
| title_full_unstemmed | Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia |
| title_short | Possibilities of lipid clinics in identifying patients with familial hypercholesterolemia |
| title_sort | possibilities of lipid clinics in identifying patients with familial hypercholesterolemia |
| topic | lipid metabolism disorders familial hypercholesterolemia total cholesterol gene mutations lipid center |
| url | https://russjcardiol.elpub.ru/jour/article/view/5275 |
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