Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report
Aim. Maturity- onset diabetes of the young (MODY) is a group of monogenic diseases with an autosomal dominant inheritance. This is a rarely diagnosed disease, occurring in 1 of 10 thousand adults and in 1 of 23 thousand children. Brief description. We present a case report of a patient with a monoge...
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«SILICEA-POLIGRAF» LLC
2023-11-01
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| Series: | Кардиоваскулярная терапия и профилактика |
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| Online Access: | https://cardiovascular.elpub.ru/jour/article/view/3768 |
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| author | V. I. Mikhailina A. N. Meshkov A. V. Kiseleva A. I. Ershova M. Zaichenoka E. S. Luboyatnikova M. S. Pokrovskaya O. M. Drapkina |
| author_facet | V. I. Mikhailina A. N. Meshkov A. V. Kiseleva A. I. Ershova M. Zaichenoka E. S. Luboyatnikova M. S. Pokrovskaya O. M. Drapkina |
| author_sort | V. I. Mikhailina |
| collection | DOAJ |
| description | Aim. Maturity- onset diabetes of the young (MODY) is a group of monogenic diseases with an autosomal dominant inheritance. This is a rarely diagnosed disease, occurring in 1 of 10 thousand adults and in 1 of 23 thousand children. Brief description. We present a case report of a patient with a monogenic diabetes HNF4A-MODY, severe hypertriglyceridemia, progressive premature coronary artery disease and a HNF4A gene pathogenic variant (ENST00000316099.8:c.1145dup).Discussion. This case demonstrates the effectiveness of triple hypoglycemic therapy, including empagliflozin for the treatment of monogenic diabetes. Despite the fact that the patient with diabetes reached the target glycated hemoglobin level, the combination of the disease with other cardiovascular risk factors (hypertension, hypertriglyceridemia, obesity, smoking, male sex) led to the progression of coronary and peripheral atherosclerosis. Considering the data of genetic testing, returning to sulfonylurea therapy should be considered. It is important for patient to follow a strict lipid-lowering diet and taking combination lipid-lowering therapy (rosuvastatin, fenofibrate and omega-3 polyunsaturated fatty acids) in order to achieve the target level of low-density lipoprotein cholesterol <1,4 mmol/l and triglycerides <1,7 mmol/l. |
| format | Article |
| id | doaj-art-e9770dd0a84b40f0a6f81b4d0cc05295 |
| institution | DOAJ |
| issn | 1728-8800 2619-0125 |
| language | Russian |
| publishDate | 2023-11-01 |
| publisher | «SILICEA-POLIGRAF» LLC |
| record_format | Article |
| series | Кардиоваскулярная терапия и профилактика |
| spelling | doaj-art-e9770dd0a84b40f0a6f81b4d0cc052952025-08-20T03:18:35Zrus«SILICEA-POLIGRAF» LLCКардиоваскулярная терапия и профилактика1728-88002619-01252023-11-01221010.15829/1728-8800-2023-37682822Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case reportV. I. Mikhailina0A. N. Meshkov1A. V. Kiseleva2A. I. Ershova3M. Zaichenoka4E. S. Luboyatnikova5M. S. Pokrovskaya6O. M. Drapkina7National Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineMoscow Institute of Physics and TechnologyNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineNational Medical Research Center for Therapy and Preventive MedicineAim. Maturity- onset diabetes of the young (MODY) is a group of monogenic diseases with an autosomal dominant inheritance. This is a rarely diagnosed disease, occurring in 1 of 10 thousand adults and in 1 of 23 thousand children. Brief description. We present a case report of a patient with a monogenic diabetes HNF4A-MODY, severe hypertriglyceridemia, progressive premature coronary artery disease and a HNF4A gene pathogenic variant (ENST00000316099.8:c.1145dup).Discussion. This case demonstrates the effectiveness of triple hypoglycemic therapy, including empagliflozin for the treatment of monogenic diabetes. Despite the fact that the patient with diabetes reached the target glycated hemoglobin level, the combination of the disease with other cardiovascular risk factors (hypertension, hypertriglyceridemia, obesity, smoking, male sex) led to the progression of coronary and peripheral atherosclerosis. Considering the data of genetic testing, returning to sulfonylurea therapy should be considered. It is important for patient to follow a strict lipid-lowering diet and taking combination lipid-lowering therapy (rosuvastatin, fenofibrate and omega-3 polyunsaturated fatty acids) in order to achieve the target level of low-density lipoprotein cholesterol <1,4 mmol/l and triglycerides <1,7 mmol/l.https://cardiovascular.elpub.ru/jour/article/view/3768hnf4a-modydiabetesmonogenic formgenetic testinghypertriglyceridemiacoronary artery diseasecombination lipid-lowering therapycase report |
| spellingShingle | V. I. Mikhailina A. N. Meshkov A. V. Kiseleva A. I. Ershova M. Zaichenoka E. S. Luboyatnikova M. S. Pokrovskaya O. M. Drapkina Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report Кардиоваскулярная терапия и профилактика hnf4a-mody diabetes monogenic form genetic testing hypertriglyceridemia coronary artery disease combination lipid-lowering therapy case report |
| title | Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report |
| title_full | Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report |
| title_fullStr | Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report |
| title_full_unstemmed | Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report |
| title_short | Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report |
| title_sort | premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes a case report |
| topic | hnf4a-mody diabetes monogenic form genetic testing hypertriglyceridemia coronary artery disease combination lipid-lowering therapy case report |
| url | https://cardiovascular.elpub.ru/jour/article/view/3768 |
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