Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype

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Published Mar 27, 2024
DOI: https://doi.org/10.22551/2024.42.1101.10277
Christoph Sucker Christof Geisen Jens Litmathe Bartosz Zawislak

Abstract

Factor XI deficiency is a rare disorder of hemostasis. Previously also known as “hemophilia C”, this defect has been regarded as a risk factor for bleeding. However, it has been known for long that bleeding tendency and severity of bleeding are not related to the residual factor XI activity in symptomatic patients. Moreover, a large proportion of patients with even severe factor XI deficiency are clinically unremarkable and do not show any signs of abnormal bleeding. Here, we present two cases of factor XI deficiency with a non-bleeding phenotype. Adequate diagnostic work-up and evaluation of the bleeding risk are reported and discussed with focus on thrombin generation assays (TGA) for the prediction of bleeding in affected patients. This is of high relevance in affected patients, particularly in the context of surgery.

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Keywords

Factor XI deficiency, thrombin generation assays, TGA

References
1. Lewandowska MD, Connors JM. Factor XI Deficiency. Hematol Oncol Clin North Am. 2021 Dec;35(6):1157-1169. doi: 10.1016/j.hoc.2021.07.012. PMID: 34535287.
2. Zhang X, Lewandowska M, Aldridge M, et al. Global epidemiology of factor XI deficiency: A targeted review of the literature and foundation reports. Haemophilia. 2023 Mar;29(2):423-434. doi: 10.1111/hae.14687. PMID: 36367760.
3. Bentounes NK, Melicine S, Martin AC, Smadja DM, Gendron N. Development of new anticoagulant in 2023: Prime time for anti-factor XI and XIa inhibitors. J Med Vasc. 2023 Apr;48(2):69-80. doi: 10.1016/j.jdmv.2023.04.002. PMID: 37422330.
4. Duga S, Salomon O. Congenital factor XI deficiency: an update. Semin Thromb Hemost. 2013 Sep;39(6):621-31. doi: 10.1055/s-0033-1353420. PMID: 23929304.

5. Batty P, Honke A, Bowles L, et al. Ongoing risk of thrombosis with factor XI concentrate: 5 years experience in two centres. Haemophilia. 2015 Jul;21(4):490-5. doi: 10.1111/hae.12682. PMID: 25855341.
6. Pike GN, Bolton-Maggs PH. Factor XI-related thrombosis and the role of concentrate treatment in factor XI deficiency. Haemophilia. 2015 Jul;21(4):477-80. doi: 10.1111/hae.12678. PMID: 25855096.
7. Sucker C, Sabel M, Stummer W, et al. Recombinant factor VIIa for the prophylaxis of perioperative hemorrhage in a patient with congenital factor XI deficiency undergoing brain tumor neurosurgery. Clin Appl Thromb Hemost. 2008 Oct;14(4):472-5. doi: 10.1177/1076029607305119. PMID: 18160590.
8. Wheeler AP, Hemingway C, Gailani D. The clinical management of factor XI deficiency in pregnant women. Expert Rev Hematol. 2020 Jul;13(7):719-729. doi: 10.1080/17474086.2020.1772745. PMID: 32437625; PMCID: PMC7605282.
9. Handa S, Sterpi M, Sacchi De Camargo Correia G, et al. Obstetric and perioperative management of patients with factor XI deficiency: a retrospective observational study. Blood Adv. 2023 May 23;7(10):1967-1975. doi: 10.1182/bloodadvances.2022008648. PMID: 36521104; PMCID: PMC10189368.
10. Wu Y, Lu Y, Zhang J. Thrombin generation assay: the present and the future. Blood Coagul Fibrinolysis. 2023 Jan 1;34(1):1-7. doi: 10.1097/MBC.0000000000001170. PMID: 36598375.
11. Depasse F, Binder NB, Mueller J, et al. Thrombin generation assays are versatile tools in blood coagulation analysis: A review of technical features, and applications from research to laboratory routine. J Thromb Haemost. 2021 Dec;19(12):2907-2917. doi: 10.1111/jth.15529. PMID: 34525255; PMCID: PMC9291770.
12. Binder NB, Depasse F, Mueller J, et al. Clinical use of thrombin generation assays. J Thromb Haemost. 2021 Dec;19(12):2918-2929. doi: 10.1111/jth.15538. PMID: 34592058; PMCID: PMC9292855.
13. Verhagen MJA, Valke LLFG, Schols SEM. Thrombin generation for monitoring hemostatic therapy in hemophilia A: A narrative review. J Thromb Haemost. 2022 Apr;20(4):794-805. doi: 10.1111/jth.15640. PMID: 35034413; PMCID: PMC9305107.
14. Kasonga F, Feugray G, Chamouni P, et al. Evaluation of thrombin generation assay in factor XI deficiency. Clin Chim Acta. 2021 Dec;523:348-354. doi: 10.1016/j.cca.2021.10.021. PMID: 34670127.
15. Rugeri L, Quélin F, Chatard B, et al. Thrombin generation in patients with factor XI deficiency and clinical bleeding risk. Haemophilia. 2010 Sep 1;16(5):771-7. doi: 10.1111/j.1365-2516.2010.02246.x. PMID: 20398070.
16. Désage S, Dargaud Y, Meunier S, et al. Report of surgeries, their outcome and the thrombin generation assay in patients with Factor XI deficiency: A retrospective single-centre study. Haemophilia. 2022 Mar;28(2):301-307. doi: 10.1111/hae.14506. PMID: 35122661.
17. Sucker C, Geisen C, Litmathe J, Schmitt U. Concomitant hypofibrinogenemia and factor XI deficiency as rare cause of bleeding during urgent dentistry: case report and short review of the literature. Arch Clin Cases. 2023 Jul 3;10(2):110-113. doi: 10.22551/2023.39.1002.10253. PMID: 37405328; PMCID: PMC10315684.
How to Cite
Sucker, C., Geisen, C., Litmathe, J., & Zawislak, B. (2024). Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype. Archive of Clinical Cases, 11(1), 1-4. https://doi.org/10.22551/2024.42.1101.10277
Issue
Vol. 11 No. 1 (2024)
Section
Case Reports
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How to Cite

Sucker, C., Geisen, C., Litmathe, J., & Zawislak, B. (2024). Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype. Archive of Clinical Cases, 11(1), 1-4. https://doi.org/10.22551/2024.42.1101.10277