2022, Number 1
Clinical manifestations of factor XII deficiency in an infant
Language: Spanish
References: 9
Page: 1-7
PDF size: 309.82 Kb.
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
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
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
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