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Ön mediastende hematomu olan ve Faktör V Leiden mutasyonu bulunan Glanzman Trombastenili bir olgu sunumu

Year 2023, Volume: 4 Issue: 1, 17 - 22, 28.04.2023

Hüseyin Tokgöz Ümran Çalışkan Tuğçe Duran Kaniye Zeynep Çalışkan Sak

https://doi.org/10.59244/ktokusbd.1173506

Abstract

Glanzmann trombasteni (GT), normal trombosit sayısı ile trombosit agregasyon disfonksiyonu ile ilişkili, kanama diyatezi oluşturan otozomal resesif geçişli bir hastalıktır. GT, glikoprotein IIb-IIIa (GPIIb-IIIa) kompleksinin azalmış seviyeleri veya azalmış işlevi ile karakterize edilir ve bu nedenle, birincil hemostazın kümelenme fazı yeterince oluşturulamadığından artan kanama eğilimi ile sonuçlanır. Faktör V Leiden mutasyonu, trombofili için yatkınlık oluşturan genetik bir mutasyondur. Faktör V ve Glanzmann trombastisinin ön mediastende hematom ile birlikte nadiren birlikte görüldüğü bu olguyu sunuyoruz.

Keywords

Factor V Leiden Glanzmann trombasteni Hematom Trombofili

References

  • Ali, N., Moiz, B., Shaikh, U., Adil, S., Rizvi, B., & Rahman, Y. (2008). Diagnostic tool for Glanzmann's thrombasthenia clinicopathologic spectrum. Journal of The College of Physicians and Surgeons Pakistan, 18(2), 91.
  • Bertina, R. M., Koeleman, B. P., Koster, T., Rosendaal, F. R., Dirven, R. J., de Ronde, H., ... & Reitsma, P. H. (1994). Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 369(6475), 64-67.
  • Botero, J. P., Lee, K., Branchford, B. R., Bray, P. F., Freson, K., Lambert, M. P., ... & Di Paola, J. (2020). Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica, 105(4), 888.
  • Dahlbäck, B., Carlsson, M., & Svensson, P. J. (1993). Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proceedings of the National Academy of Sciences, 90(3), 1004-1008.
  • Farsinejad, A., Abolghasemi, H., Kazemi, A., Aghaiipour, M., Hadjati, E., Faranoush, M., ... & Ala, F. (2011). Classification of Iranian patients with Glanzmann's thrombasthenia using a flow cytometric method. Platelets, 22(5), 321-327.
  • French, D. L. (1998). The molecular genetics of Glanzmann's thrombasthenia. Platelets, 9(1), 5-20.
  • Gultekin, N. D., Yilmaz, F. H., Tokgoz, H., Tarakci, N., & Caliskan, U. (2019). Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations. Indian Pediatrics, 56(2), 143-144.
  • Iqbal, I., Farhan, S., & Ahmed, N. (2016). Glanzmann thrombasthenia: a clinicopathological profile. J Coll Physicians Surg Pak, 26(8), 647-50.
  • Kannan, M., & Saxena, R. (2009). Glanzmann's thrombasthenia: an overview. Clinical and Applied Thrombosis/Hemostasis, 15(2), 152-165.
  • Kaplan, S., Pinar, G., Kaplan, B., Aslantekin, F., Karabulut, E., Ayar, B., & Dilmen, U. (2016). The prevalence of consanguineous marriages and affecting factors in Turkey: a national survey. Journal of biosocial science, 48(5), 616-630.
  • Laguerre, M., Sabi, E., Daly, M., Stockley, J., Nurden, P., Pillois, X., & Nurden, A. T. (2013). Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with Glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. PloS one, 8(11), e78683.
  • Lane, D. A., Mannucci, P. M., Bauer, K. A., Bertina, R. M., Bochkov, N. P., Boulyjnkov, V., ... & Seligsohn, U. (1996). Inherited thrombophilia: part 1. Thrombosis and haemostasis, 76(11), 651-662.
  • Nair, S., Ghosh, K., Kulkarni, B., Shetty, S., & Mohanty, D. (2002). Glanzmann's thrombasthenia: updated. Platelets, 13(7), 387-393.
  • Nurden, A., Mercié, P., Zely, P., & Nurden, P. (2012). Deep vein thrombosis, Raynaud's phenomenon, and Prinzmetal angina in a patient with Glanzmann thrombasthenia. Case Reports in Hematology, 2012.
  • Rai, R., Shlebak, A., Cohen, H., Backos, M., Holmes, Z., Marriott, K., & Regan, L. (2001). Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage. Human Reproduction, 16(5), 961-965.
  • Sebastiano, C., Bromberg, M., Breen, K., & Hurford, M. T. (2010). Glanzmann's thrombasthenia: report of a case and review of the literature. International journal of clinical and experimental pathology, 3(4), 443.
  • Siddiq, S., Clark, A., & Mumford, A. (2011). A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. Haemophilia, 17(5), e858-e869.
  • Tokgoz, H., Torun Ozkan, D., Caliskan, U., & Akar, N. (2015). Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann’s thrombasthenia. Platelets, 26(8), 779-782.

A case report of Glanzman Thrombasthenia with anterior mediastinal hematoma and Factor V Leiden mutation

Year 2023, Volume: 4 Issue: 1, 17 - 22, 28.04.2023

Hüseyin Tokgöz Ümran Çalışkan Tuğçe Duran Kaniye Zeynep Çalışkan Sak

https://doi.org/10.59244/ktokusbd.1173506

Abstract

Glanzmann thrombasthenia (GT) is an autosomal recessive disease associated with platelet aggregation dysfunction with normal platelet count, causing bleeding diathesis. GT is characterized by decreased levels or decreased function of the glycoprotein IIb-IIIa (GPIIb-IIIa) complex and therefore results in an increased tendency to bleeding as the aggregation phase of primary hemostasis cannot be sufficiently formed. Factor V Leiden mutation is a genetic mutation predisposing to thrombophilia. We present this case in which Factor V and Glanzmann thrombasthenia with hematoma in the anterior mediastinum are rarely seen together.

Keywords

Glanzmann thrombasthenia Factor V Leiden Hematoma Thrombophilia

References

  • Ali, N., Moiz, B., Shaikh, U., Adil, S., Rizvi, B., & Rahman, Y. (2008). Diagnostic tool for Glanzmann's thrombasthenia clinicopathologic spectrum. Journal of The College of Physicians and Surgeons Pakistan, 18(2), 91.
  • Bertina, R. M., Koeleman, B. P., Koster, T., Rosendaal, F. R., Dirven, R. J., de Ronde, H., ... & Reitsma, P. H. (1994). Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature, 369(6475), 64-67.
  • Botero, J. P., Lee, K., Branchford, B. R., Bray, P. F., Freson, K., Lambert, M. P., ... & Di Paola, J. (2020). Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica, 105(4), 888.
  • Dahlbäck, B., Carlsson, M., & Svensson, P. J. (1993). Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proceedings of the National Academy of Sciences, 90(3), 1004-1008.
  • Farsinejad, A., Abolghasemi, H., Kazemi, A., Aghaiipour, M., Hadjati, E., Faranoush, M., ... & Ala, F. (2011). Classification of Iranian patients with Glanzmann's thrombasthenia using a flow cytometric method. Platelets, 22(5), 321-327.
  • French, D. L. (1998). The molecular genetics of Glanzmann's thrombasthenia. Platelets, 9(1), 5-20.
  • Gultekin, N. D., Yilmaz, F. H., Tokgoz, H., Tarakci, N., & Caliskan, U. (2019). Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations. Indian Pediatrics, 56(2), 143-144.
  • Iqbal, I., Farhan, S., & Ahmed, N. (2016). Glanzmann thrombasthenia: a clinicopathological profile. J Coll Physicians Surg Pak, 26(8), 647-50.
  • Kannan, M., & Saxena, R. (2009). Glanzmann's thrombasthenia: an overview. Clinical and Applied Thrombosis/Hemostasis, 15(2), 152-165.
  • Kaplan, S., Pinar, G., Kaplan, B., Aslantekin, F., Karabulut, E., Ayar, B., & Dilmen, U. (2016). The prevalence of consanguineous marriages and affecting factors in Turkey: a national survey. Journal of biosocial science, 48(5), 616-630.
  • Laguerre, M., Sabi, E., Daly, M., Stockley, J., Nurden, P., Pillois, X., & Nurden, A. T. (2013). Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with Glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. PloS one, 8(11), e78683.
  • Lane, D. A., Mannucci, P. M., Bauer, K. A., Bertina, R. M., Bochkov, N. P., Boulyjnkov, V., ... & Seligsohn, U. (1996). Inherited thrombophilia: part 1. Thrombosis and haemostasis, 76(11), 651-662.
  • Nair, S., Ghosh, K., Kulkarni, B., Shetty, S., & Mohanty, D. (2002). Glanzmann's thrombasthenia: updated. Platelets, 13(7), 387-393.
  • Nurden, A., Mercié, P., Zely, P., & Nurden, P. (2012). Deep vein thrombosis, Raynaud's phenomenon, and Prinzmetal angina in a patient with Glanzmann thrombasthenia. Case Reports in Hematology, 2012.
  • Rai, R., Shlebak, A., Cohen, H., Backos, M., Holmes, Z., Marriott, K., & Regan, L. (2001). Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage. Human Reproduction, 16(5), 961-965.
  • Sebastiano, C., Bromberg, M., Breen, K., & Hurford, M. T. (2010). Glanzmann's thrombasthenia: report of a case and review of the literature. International journal of clinical and experimental pathology, 3(4), 443.
  • Siddiq, S., Clark, A., & Mumford, A. (2011). A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. Haemophilia, 17(5), e858-e869.
  • Tokgoz, H., Torun Ozkan, D., Caliskan, U., & Akar, N. (2015). Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann’s thrombasthenia. Platelets, 26(8), 779-782.
There are 18 citations in total.

Details

Primary Language English
Subjects Clinical Sciences
Journal Section Olgu Sunumu
Authors

Hüseyin Tokgöz 0000-0002-3064-4646

Ümran Çalışkan 0000-0003-4695-7046

Tuğçe Duran 0000-0002-7353-4527

Kaniye Zeynep Çalışkan Sak 0000-0003-0847-1168

Publication Date April 28, 2023
Submission Date September 10, 2022
Acceptance Date December 16, 2022
Published in Issue Year 2023 Volume: 4 Issue: 1

Cite

APA Tokgöz, H., Çalışkan, Ü., Duran, T., Çalışkan Sak, K. Z. (2023). A case report of Glanzman Thrombasthenia with anterior mediastinal hematoma and Factor V Leiden mutation. KTO Karatay Üniversitesi Sağlık Bilimleri Dergisi, 4(1), 17-22. https://doi.org/10.59244/ktokusbd.1173506
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