Thrombophilic risk factors in women with recurrent abortion

Conclusion: MTHFR gene mutation, alone and/or with, concurrent thrombophilic defects was the most frequent factor for hereditary thrombophilia among our patients with a history of recurrent abortion.

📌 3 Key Takeaways

🎯

Objective & Hypothesis:Objectives: The aim of this study was to determine the thrombophilic risk factors and their frequency among women with history of recurrent abortion and a detected thrombophilic defect.

📊

Key Findings & Data:Materials and methods: In this study, 41 women with history of recurrent abortion, who have one or more detected thrombophilic defects including protein S, protein C, antithrombin deficiency, activated protein C resistance (APC-R), factor V Leiden (FVL), prothrombin G 20210A (PTG), methylenetetrahydrofolate reductase (MTHFR) C677 T gene mutation, antiphospholipid antibodies and elevated levels of factor VIII were retrospectively investigated.

💡

Conclusion & Impact:Conclusion: MTHFR gene mutation, alone and/or with, concurrent thrombophilic defects was the most frequent factor for hereditary thrombophilia among our patients with a history of recurrent abortion.

🔬Design:Makale

📍Scope:Comprehensive Sample

⚙️Variables:trombofili · klinik trombofili · tekrarlayan abortus

Abstract

Objectives: The aim of this study was to determine the thrombophilic risk factors and their frequency among women with history of recurrent abortion and a detected thrombophilic defect. Materials and methods: In this study, 41 women with history of recurrent abortion, who have one or more detected thrombophilic defects including protein S, protein C, antithrombin deficiency, activated protein C resistance (APC-R), factor V Leiden (FVL), prothrombin G 20210A (PTG), methylenetetrahydrofolate reductase (MTHFR) C677 T gene mutation, antiphospholipid antibodies and elevated levels of factor VIII were retrospectively investigated. Results: The most common detected thrombophilia defect (53.7%) was MTHFR gene mutation. While 22 of 41 patients (53.7%) had more than one concomitant defect, 20 of them had two concomitant defects and the remaining had three defects. Conclusion: MTHFR gene mutation, alone and/or with, concurrent thrombophilic defects was the most frequent factor for hereditary thrombophilia among our patients with a history of recurrent abortion.

Özet

Amaç: Bu çalışmada, tekrarlayan düşük nedeni ile hematoloji polikliniğine başvuran ve en az bir trombofilik defekt saptanan kadınlarda trombofilik risk faktörleri ve sıklığını değerlendirmek amaçlanmıştır. Gereç ve yöntem: Bir ya da daha fazla trombofilik defekt (protein S eksikliği, protein C eksikliği, antitrombin, aktive protein C direnci (APC-R), faktör V Leiden (FVL), protrombin G 20210A (PTG), metilentetrahidrofolat redüktaz (MTHFR C677 T) gen mutasyonları, antifosfolipid antikorları (antikardiyolipin antikoru IgM ve IgG, lupus antikoagülanı) varlığı ve Faktör VIII yüksekliği) ve tekrarlayan abortus öyküsü olan 41 olgu geriye dönük olarak araştırıldı. Bulgular: En sık saptanan trombofilik defekt %53.7 MTHFR 677T mutasyonu idi. Kırk bir hastanın 22'si (%53.7) (n:22; 20 ikili, 2 üçlü defekt) birden fazla defekti aynı anda birlikte taşımaktayken, 20'si aynı anda iki, geri kalanı üçlü defekte sahipti. Sonuç: Hasta grubumuzda MTHFR gen mutasyonu tek ve/veya diğer trombofilik faktörlerle kombine olarak, tekrarlayan abortuslu hastalarda en sık rastlanan herediter trombofili etkeni olarak saptandı.

Keywords

trombofili klinik trombofili tekrarlayan abortus factör V Leiden gene mutasyonu aktive protein-C direnci metilentetrahidrofolat redüktaz gen mutasyonu protrombin G20210A gen mutasyonu protein C eksikliği protein S eksikliği antikardiolipin a thrombophilia clinical thrombophilia recurrent abortion factor V Leiden gene mutation actived protein-C resistance methylenetetrahydrofolate reductase gene mutation prothrombin G20210A gene mutation protein C deficiency protein S deficiency anti

🔖

Cite This Article

Yokuş, O., Balçık, Ö. Ş., Albayrak, M., Ceran, F., Yılmaz, M., Dağdaş, S., Özet, G. (2010). Thrombophilic risk factors in women with recurrent abortion. Journal of Clinical and Experimental Investigations, Cilt: 1 Sayı: 3, 168–172. https://doi.org/10.5799/ahinjs.01.2010.03.0035

📄 Full Text PDF Viewer

Open in New Tab ↗

↗New Tab

📄

PDF görüntüleyici hazırlanıyor...

References (19)

Friedman KD, Rodgers GM. Thrombosis and Antithrombot- ic Therapy. In: Greer JP, Foerster J, Lukens J, Rodgers G, Paraskevas F, Glader B (Editors). Wintrobe’s Clinical He- matology. 11th Edition, Philadelphia: Lippincott Williams & Wilkins, 2004: 1713-1728.
Geyman JP, Oliver LM, Sullivan SD. Expectant, medical, or surgical treatment of spontaneous abortion in first trimester of pregnancy? A pooled quantitative literature evaluation. J Am Board Fam Pract 1999;12:55-64.
Reznikoff-Etiévan MF, Cayol V, Carbonne B, et al. Fac- tor V Leiden and G20210A prothrombin mutations are risk factors for very early recurrent miscarriage. BJOG 2001;108:1251-4.
de Vries JI, Dekker GA, Huijgens PC, et al. Hyperhomo- cysteinaemia and protein S deficiency in complicated preg- nancies. Br J Obstet Gynaecol 1997;104:1248-54.
Dekker GA, de Vries JI, Doelitzsch PM, et al. Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol 1995;173:1042-8.
Wouters MG, Boers GH, Blom HJ, et al. Hyperhomocysteine- mia: a risk factor in women with unexplained recurrent ear- ly pregnancy loss. Fertil Steril 1993;60:820-5.
Kupferminc MJ, Eldor A, Steinman N, et al. Increased fre- quency of genetic thrombophilia in women with complica- tions of pregnancy. N Engl J Med 1999;340:9-13.
van Pampus MG, Dekker GA, Wolf H, et al. High prevalence of hemostatic abnormalities in women with a history of se- vere preeclampsia. Am J Obstet Gynecol 1999;180:1146- 50.
Clark DA, Lea RG, Podor T, et al. Cytokines determining the success or failure of pregnancy. Ann NY Acad Sci 1991; 626: 524-36.
Salvagno GL, Lippi G, Franchini M, et al. The cost-bene- fit ratio of screening pregnant women for thrombophilia. Blood Transfus 2007;5:189-203.
Brenner B. Inherited thrombophilia and pregnancy loss. Thromb Haemost 1999;82:634–40.
Tripodi A. Issues concerning the laboratory investigation of inherited thrombophilia. Mol Diagn 2005;9:181-6.
Robertson L, Wu O, Langhorne P, et al. Thrombosis: Risk and economic assessment of thrombophilia screening (TREATS) study. Thrombophilia in pregnancy: a system- atic review. Br J Haematol 2006;132:171-96.
Greer IA. Venous thromboembolism and anticoagulant therapy in pregnancy. Gend Med. 2005;2 Suppl A:S10-17.
Santoro R, Iannaccaro P, Sottilotta G. Prothrombotic gene mutations in women with recurrent abortions and intrauter- ine fetal death. Minerva Ginecol 2005;57:447-50.
Coulam CB, Jeyendran RS, Fishel LA, et al. Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage. Am J Reprod Immunol 2006;55:360-8.
Makino A, Nakanishi T, Sugiura-Ogasawara M, et al. No association of C677T methylenetetrahydrofolate reductase and an endothelial nitric oxide synthase polymorphism with recurrent pregnancy loss. Am J Reprod Immunol 2004;52:60-6.
Foka ZJ, Lambropoulos AF, Saravelos H, et al. Factor V leiden and prothrombin G20210A mutations, but not meth- ylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Hum Reprod 2000;15:458-62.
De Stefano V, Casorelli I, Rossi E, et al. Interaction between hyperhomocysteinemia and inherited thrombophilic fac- tors in venous thromboembolism. Semin Thromb Hemost 2000;26:305-11.