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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Main Authors: V. I. Mikhailina, A. N. Meshkov, A. V. Kiseleva, A. I. Ershova, M. Zaichenoka, E. S. Luboyatnikova, M. S. Pokrovskaya, O. M. Drapkina
Format: Article
Language:Russian
Published: «SILICEA-POLIGRAF» LLC 2023-11-01
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.
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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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