Clinical and diagnostic significance of homocysteine metabolism disorders in pregnancy complications in a woman with severe preeclampsia combined with extragenital pathology (а case report)

The relevance of studying homocysteine (Hcy) metabolism disorders lies in their significant impact on maternal and perinatal health, especially in pregnancy complications such as preeclampsia (PE) and diabetes mellitus (DM). Aim - to evaluate the clinical and diagnostic significance of Hcy metabolism disorders in pregnancy complications in a woman with severe PE combined with DM. Clinical case. A 35-year-old pregnant woman with chronic arterial hypertension, type II diabetes, and class III obesity. Her obstetric history includes two pregnancies ending in preterm labor (at 30 and 26 weeks), placental dysfunction, intrauterine growth restriction, cesarean section, and perinatal death. Genetic testing revealed homozygous mutations in the SERPINE1 and ITGA2 genes, heterozygous mutations in the ITGB3 gene, homozygous mutations in the methionine synthase reductase (MTR) gene, and heterozygous mutations in the methylenetetrahydrofolate reductase (MTHFR) gene. Anti-phosphatidylserine antibodies were detected. Morphological and histological examination confirmed disturbances in the placental blood circulation system. Conclusions. Homocysteine metabolism disorders are significant risk factors for both severe PE and vascular complications in pregnant women with DM. Genetic mutations, such as homozygous MTR and heterozygous MTHFR mutations, may contribute to pregnancy complications. Mutations in the SERPINE1, ITGA2, and ITGB3 genes increase the risk of thrombophilia, which, in the context of Hcy metabolism disorders, can worsen pregnancy outcomes. Histological findings confirm that thrombophilia resulting from Hcy metabolism disturbances adversely affects the uteroplacental blood circulation, leading to intrauterine growth restriction. The study was conducted following the principles of the Declaration of Helsinki. The study protocol was approved by the ethics committee of the participating institution. Informed consent was obtained from all patients for the research. The authors declare no conflict of interest.