Clinical case of myocardial infarction with unspecified familial hypercholesterolemia
Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associ...
| Main Authors: | , |
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| Format: | Article |
| Language: | Russian |
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Siberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and Genetics
2022-01-01
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| Series: | Атеросклероз |
| Subjects: | |
| Online Access: | https://ateroskleroz.elpub.ru/jour/article/view/547/491 |
| _version_ | 1797963007639158784 |
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| author | Natalya G. Lozhkina Aleksandr N. Spiridonov |
| author_facet | Natalya G. Lozhkina Aleksandr N. Spiridonov |
| author_sort | Natalya G. Lozhkina |
| collection | DOAJ |
| description | Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease. |
| first_indexed | 2024-04-11T01:22:43Z |
| format | Article |
| id | doaj.art-563220f10a8f4e768a273f6e198247de |
| institution | Directory Open Access Journal |
| issn | 2078-256X |
| language | Russian |
| last_indexed | 2024-04-11T01:22:43Z |
| publishDate | 2022-01-01 |
| publisher | Siberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and Genetics |
| record_format | Article |
| series | Атеросклероз |
| spelling | doaj.art-563220f10a8f4e768a273f6e198247de2023-01-03T11:07:31ZrusSiberian Branch of Russian Academy of Sciences, Research Institute of Internal and Preventive Medicine, branch of the Institute of Cytology and GeneticsАтеросклероз2078-256X2022-01-011747478https://doi.org/10.52727/2078-256X-2021-17-4-74-78Clinical case of myocardial infarction with unspecified familial hypercholesterolemiaNatalya G. Lozhkina0https://orcid.org/0000-0002-4832-3197Aleksandr N. Spiridonov1https://orcid.org/0000-0003-4892-0861Novosibirsk State Medical University Russian FederationResearch Institutе of Internal and Preventive Medicine, Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Russian FederationFamilial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.https://ateroskleroz.elpub.ru/jour/article/view/547/491familial hypercholesterolemiamyocardial infarction |
| spellingShingle | Natalya G. Lozhkina Aleksandr N. Spiridonov Clinical case of myocardial infarction with unspecified familial hypercholesterolemia Атеросклероз familial hypercholesterolemia myocardial infarction |
| title | Clinical case of myocardial infarction with unspecified familial hypercholesterolemia |
| title_full | Clinical case of myocardial infarction with unspecified familial hypercholesterolemia |
| title_fullStr | Clinical case of myocardial infarction with unspecified familial hypercholesterolemia |
| title_full_unstemmed | Clinical case of myocardial infarction with unspecified familial hypercholesterolemia |
| title_short | Clinical case of myocardial infarction with unspecified familial hypercholesterolemia |
| title_sort | clinical case of myocardial infarction with unspecified familial hypercholesterolemia |
| topic | familial hypercholesterolemia myocardial infarction |
| url | https://ateroskleroz.elpub.ru/jour/article/view/547/491 |
| work_keys_str_mv | AT natalyaglozhkina clinicalcaseofmyocardialinfarctionwithunspecifiedfamilialhypercholesterolemia AT aleksandrnspiridonov clinicalcaseofmyocardialinfarctionwithunspecifiedfamilialhypercholesterolemia |