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Revista Cubana de Pediatría

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2022, Number 1

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Rev Cubana Pediatr 2022; 94 (1)

Clinical manifestations of factor XII deficiency in an infant

Patarroyo VDA, Martínez EN
Full text How to cite this article

Language: Spanish
References: 9
Page: 1-7
PDF size: 309.82 Kb.


Key words:

factor XII, factor XII deficiency, activated partial thromboplastin time, ecchymosis.

ABSTRACT

Introduction: Factor XII or Hageman factor belongs to the contact system as it is the initiator of the intrinsic coagulation pathway. Low concentrations of this factor are associated with prolonged activated partial thromboplastin time, however, hemorrhagic manifestations do not occur as occurs in the deficiency of other factors.
Objective: Describe the clinical manifestations of an infant diagnosed with coagulation factor XII deficiency.
Case presentation: A 10-month-old infant who had spontaneous onset of ecchymosis and a factor XII deficiency was diagnosed.
Conclusions: Although not common, factor XII deficiency may be associated with hemorrhagic manifestations such as ecchymosis, as described in the present case.


REFERENCES

  1. Bender L, Weidmann H, Rose-John S, Renné T, Long AT. Factor XII-driven inflammatory reactions with implications for anaphylaxis. Front Immunol. 2017;8:1-11. DOI: https://doi.org/10.3389/fimmu.2017.01115

  2. Girolami A, Ferrari S, Sambado L, Peroni E, Cosi E. Myocardial infarctions and other acute coronary syndromes in rare congenital bleeding disorders: A critical analysis of all reported cases. Clin App Thrombosis/Hemostasis. 2015;21(4):359-64. DOI: https://doi.org/10.1177/1076029614548056

  3. Govers-Riemslag J, Konings J, Cosemans J, Van Geffen J, Bass de Laat, Heemskerk W, et al. Impact of deficiency of intrinsic coagulation factors XI and XII on Ex Vivo Thrombus Formation and Clot Lysis. TH open: companion journal to thrombosis and haemostasis. 2019;3(3):e273-e285. DOI: https://doi.org/10.1055/s-0039-1693485

  4. Petousis S, Karavas G, Siarku C, Dagklis T, Karapavildou P, Athanasiadis A, et al. Uneventful delivery of two pregnancies in a woman with severe factor XII deficiency: case report and systematic review. Case reports in perinatal medicine. 2018;7(1):20170035. DOI: https://doi.org/10.1515/crpm-2017-0035

  5. Zilberman-Rudenko J, Reitsma S, Puy C, Rigg R, Smith A, Tucker E, et al. Factor XII activation promotes platelet consumption in the presence of bacterial-type long-chain polyphosphate in vitro and in vivo. Arteriosclerosis, Thrombosis, and Vascular Biology. 2018;38(8):1748-60. DOI: https://doi.org/10.1161/ATVBAHA.118.311193

  6. Girolami A, Ferrari S, Cosi E, Luigia Randi M. Heterozygous FXII deficiency is not associated with an increased incidence of thrombotic events: Results of a long-term study. Blood Cells, Mol Dis. 2019;77:8-11. DOI: https://doi.org/10.1016/j.bcmd.2019.03.001

  7. Chaudhry L, Sadek W, Chaudhry G, Atawi E. Factor XII (Hageman factor) deficiency: a rare harbinger of life-threatening complications. Pan African Medical J. 2019;33:39. DOI: https://doi.org/10.11604/pamj.2019.33.39.18117

  8. Ahmed K, Ali M, Mudawi D, Yassin M, Mohamed S. Factor XII deficiency: A rare case report and literature review. International Journal of case reports. 2020;4:119. DOI: https://doi.org/10.28933/ijcr-2020-02-1505

  9. Fernandes H, Newton S, Rodrigues J. Factor XII Deficiency mimicking bleeding diathesis: A unique presentation and diagnostic pitfall. Cureus. 2018;10(6):e2817. DOI: https://doi.org/10.7759/cureus.2817




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Rev Cubana Pediatr. 2022;94