• Home
  • NEW DAY MEDICINE
  • 8 (82) 2025
  • 74 -8 (82) 2025 - Radjabova Z.A. - UNMASKING HIDDEN TRIGGERS: THE GENETIC AND ANAMNESTIC FOUNDATIONS OF CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME

74 -8 (82) 2025 - Radjabova Z.A. - UNMASKING HIDDEN TRIGGERS: THE GENETIC AND ANAMNESTIC FOUNDATIONS OF CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME

UNMASKING HIDDEN TRIGGERS: THE GENETIC AND ANAMNESTIC FOUNDATIONS OF CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME

Radjabova Z.A. - Center for the Development of Professional Qualifications of Medical Workers under the Ministry of Health of the Republic of Uzbekistan

Resume

Objective: To identify and analyze the constellation of latent anamnestic and genetic predictors that determine the development of catastrophic antiphospholipid syndrome (CAPS) in pregnant women. Materials and Methods: A comparative case-control study was conducted, including a cohort of 12 patients with a verified diagnosis of CAPS and a control group of 50 women with physiological pregnancies. A detailed analysis of medical histories was performed, along with molecular genetic typing for polymorphisms in hemostasis system genes (F5 Leiden, F2 Prothrombin, PAI-1) and folate cycle genes (MTHFR). Results: Patients with CAPS were found to be characterized by a maximally burdened medical history, including a 100% incidence of arterial hypertension and a family history of thrombosis. A unique genetic profile was identified, featuring a 100% frequency of the homozygous mutant F5 Leiden (AA) genotype, combined with a high frequency of homozygous mutations in the F2 (33.3%) and PAI-1 (25.0%) genes. The cumulative effect of these factors creates a potent prothrombotic potential. Conclusion: The development of CAPS is not a random event but rather the logical outcome in patients with a unique combination of powerful latent predictors. Identification of this risk profile (a combination of a burdened medical history and high-risk multigenic thrombophilia) during preconception counseling is key for risk stratification and the development of aggressive preventive therapy.

Key words: catastrophic antiphospholipid syndrome, pregnancy, predictors, thrombophilia, F5 Leiden, family history, arterial hypertension, preconception care.

First page

425

Last page

428

For citation:Radjabova Z.A. - UNMASKING HIDDEN TRIGGERS: THE GENETIC AND ANAMNESTIC FOUNDATIONS OF CATASTROPHIC ANTIPHOSPHOLIPID SYNDROME//New Day in Medicine 8(82)2025 425-428 https://newdayworldmedicine.com/en/new_day_medicine/8-82-2025

List of References

  1. Dolgushina N.V., Vereina N.K., Korotkova O.V. (2021). Hereditary thrombophilia and antiphospholipid syndrome in the genesis of obstetric complications. // Akusherstvo i Ginekologiya (Obstetrics and Gynecology), 2021;(5):28-36. (In Russian).
  2. Makatsariya A.D., Bitsadze V.O., Khizroeva D.Kh. et al. (2018). Thrombotic microangiopathies in obstetric practice. // Obstetrics, Gynecology and Reproduction, 2018;12(1):50-63. (In Russian).
  3. Sidorova I.S., Nikitina N.A. (2020). Thrombotic microangiopathies in obstetrics: HELLP-syndrome. Obstetrics and Gynecology, 2020;(3):22-28. (In Russian).
  4. Asherson R.A. (2006). The catastrophic antiphospholipid syndrome. // Journal of Rheumatology, 2006;33(6):1042-1047.
  5. Cervera R., Rodriguez-Pintó I., Espinosa G. (2017). The diagnosis and clinical management of the catastrophic antiphospholipid syndrome: A comprehensive review. // Journal of Autoimmunity, 2017;81:1-11.
  6. Gomez-Puerta J.A., Cervera R. (2014). Pathogenesis of the antiphospholipid syndrome. / Seminars in Thrombosis and Hemostasis, 2014;40(1): 39-47.
  7. Miyakis S., Lockshin M.D., Atsumi T., et al. (2006). International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). // Journal of Thrombosis and Haemostasis, 2006;4(2):295-306.
  8. Pengo V., Ruffatti A., Legnani C., et al. (2010). Clinical course of high-risk patients diagnosed with antiphospholipid syndrome. // Journal of Thrombosis and Haemostasis, 2010;8(1):237-242.
  9. Rodriguez-Pintó I., Moitinho M., Santacreu I., et al. (2018). Catastrophic antiphospholipid syndrome (CAPS): Descriptive analysis of 500 patients from the International CAPS Registry. / Seminars in Arthritis and Rheumatism, 2018;48(2):312-318.
  10. Tektonidou M.G., Andreoli L., Limper M., et al. (2019). EULAR recommendations for the management of antiphospholipid syndrome in adults. // Annals of the Rheumatic Diseases, 2019;78(10):1296-1304.

    file

    download