Genetic Thrombophilia in Patients with Diabetic Retinopathy Associated with Type 2 Diabetes Mellitus
Year: 2026
Type: article
Study design: Observational Study
Abstract: Against the background of diabetes mellitus (DM), virtually all components of the hemostasis system are affected in patients, leading to the development of thrombophilia. The pathological changes in the body of patients with DM are based on generalized damage to the vascular system – macro- and microangiopathy. A number of authors state that multifactorial hereditary thrombophilia (MHT) is a risk factor for retinal arterial occlusions (RAO) and retinal vein occlusions (RVO) in patients with diabetic retinopathy (DR). Hemostasis genes and the prevalence of intergenic associations in patients with DR and diabetic macular edema (DME) with type 2 DM are poorly studied. Objective. To investigate and analyze changes in the hemostasis system, mutations, and polymorphisms of hemostasis genes in patients with clinical forms of DR and DME associated with type 2 DM. Materials and Methods. An analysis of 50 outpatient records of patients with DR (100 eyes) was performed. Patient age was 45–55 years; 30 were female, 20 were male. Hemostasis system studies were conducted using screening and specialized methods. Molecular genetic testing was performed using PCR. Three groups of patients with DR were identified: NPDR-2 – 20 patients; NPDR-3 – 15 patients; PDR – 15 patients. Concomitant diseases: DM, hypertension, coronary heart disease in 18 patients; lower extremity macroangiopathy in 8 patients; diabetic nephropathy in 4 patients. Glucose level was 8.7 ± 2.4 mmol/L. Follow-up duration ranged from 2 weeks to 5 years. Ophthalmological examinations included standard and specialized methods. Results. Multifactorial hereditary thrombophilia (MHT) was found in 100% of patients with retinal vein occlusion, including 16% in combination with lupus anticoagulant (LA). In groups 1, 2, and 3, the FGB gene mutation (-455 G>A) combined with endothelial dysfunction genes (ACE, ATGR1, AGT, NOS3) predominated – 40%; the F2 gene mutation (20210G>A) combined with the F5 gene mutation (1691 G>A), with ACE, ATGR1, AGT genes, combined with the platelet gene P2Y12 ins801A (AP), with folate cycle genes and endothelial genes – 18%; the PAI-1 gene (-675 5G>4G) with endothelial and folate genes – 14%. Polymorphism in the F13A gene combined with the platelet receptor gene polymorphism ITGA2: 807 C>T – 12%. Conclusions. MHT underlies thrombohaemorrhagic syndrome in the microvasculature of the retina with DR, DME, with zones of ischemia in the center and periphery of the retina. Pathological changes in the hemostasis system, mutations and polymorphisms of hemostasis genes, intergenic associations, and the circulation of LA in the blood are associated with the risk of high cystic macular edema in DR patients, as well as with vascular catastrophes: RVO, RAO in patients with cardiovascular pathology associated with type 2 DM.
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W7151404412
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