scholarly journals Congenital Coagulation Factor XIII Deficiency Revealed by Convulsion: A Case Report

2021 ◽  
pp. 26-29
Author(s):  
N. Mebrouk ◽  
T. Benouachane ◽  
L. Chtouki ◽  
F. Jabourik ◽  
A. Bentahila
Keyword(s):  
Intracerebral Hemorrhage ◽  
Factor Xiii ◽  
Specific Treatment ◽  
Coagulation Factor ◽  
Fresh Frozen Plasma ◽  
Coagulation Disorder ◽  
Inherited Disease ◽  
Factor Xiii Deficiency ◽  
Coagulation Tests ◽  
Fresh Frozen

Factor XIII deficiency is a rare inherited disease, with a particularly high risk of intracerebral hemorrhage. We report the case of a newborn who was suspected to have a coagulation disorder at birth, due to an intracerebral hemorrhage. A quantitative dosage of factor XIII was requested but the usual coagulation tests (thromboplastin, thrombokinase, fibrinogen) were normal.  Because of unavailability of specific treatment with factor XIII concentrate, the patient was treated with fresh frozen plasma.  The initial dose was for normalizing factor XIII; subsequent monthly doses were designed for preventing the occurrence of serious bleeding.

Increased thrombin generation and fibrinogen level after therapeutic plasma transfusion: Relation to bleeding

2008 ◽  
Vol 99 (01) ◽  
pp. 64-70 ◽  
Author(s):  
Paola E. J. van der Meijden ◽  
René van Oerle ◽  
Joyce Curvers ◽  
Elisabeth C. M. van Pampus ◽  
Saskia E. M Schols ◽  
...  
Keyword(s):  
Thrombin Generation ◽  
Fibrinogen Level ◽  
Coagulation Factor ◽  
Peak Height ◽  
Fresh Frozen Plasma ◽  
Plasma Transfusion ◽  
Perioperative Bleeding ◽  
Coagulation Tests ◽  
Fresh Frozen ◽  
Dilutional Coagulopathy

SummaryIn a clinical setting, fresh frozen plasma (FFP) is transfused to diluted patients with complicated surgery or trauma, as guided by prolonged conventional coagulation times or low fibrinogen levels. However, the limited sensitivity of these coagulation tests may restrict their use in measuring the effect of transfusion and hence predicting the risk of perioperative bleeding. We used the more sensitive, calibrated automated thrombogram (CAT) method to evaluate the result of therapeutic FFP transfusion to 51 patients with dilutional coagulopathy. Thrombin generation was measured in pre- and post-transfusion plasma samples in the presence of either platelets or phospholipids. For all patients, the transfusion led to higher plasma coagulation factor levels, a shortened activated partial thromboplastin time, and a significant increase in thrombin generation (peak height and endogenous thrombin potential). Interestingly, thrombin generation parameters and fibrinogen levels were higher in posttransfusion plasmas from patients who stopped bleeding (n=32) than for patients with ongoing bleeding (n=19). Plasmas from 15 of the 19 patients with ongoing bleeding were markedly low in either thrombin generation or fibrinogen level. We conclude that the thrombin generation method detects improved haemostatic activity after plasma transfusion. Furthermore, the data suggest that thrombin generation and fibrinogen are independent determinants of the risk of perioperative bleeding in this patient group.

Znaczenie kliniczne niedoboru czynnika XIII

2018 ◽  
Vol 22 (3) ◽  
Author(s):  
Izabela Romanowska ◽  
Paweł Łaguna ◽  
Katarzyna Koch ◽  
Michał Matysiak
Keyword(s):  
Factor Xiii ◽  
Clinical Manifestations ◽  
Fresh Frozen Plasma ◽  
Diagnostic Methods ◽  
Screening Tests ◽  
Factor Xiii Deficiency ◽  
Congenital Deficiency ◽  
Fresh Frozen ◽  
Bleeding Episodes ◽  
Frozen Plasma

Factor XIII deficiency is very rare bleeding disorder with an incidence of one per several milions of population. It can be congenital or acquired in several medical conditions, for example in malignancies, autoimmune diseases and after some medications. The level of factor XIII < 5% causes clinical manifestations. It presents not only with mucosal, cutaneous and soft tissue bleeding, poor wound healing but also with intracranial haemorrhage. The congenital deficiency in women is the reason reccurent miscarriages. The diagnosis of factor XIII deficiency requires specialistic tests because routine screening tests are normal. The patients are treated with fresh frozen plasma, cryoprecipitate and FXIII concentrates. We present the latest diagnostic methods for factor XIII deficiency and treatment during bleeding episodes as well as prophylactic procedures.

Coagulation factor XIII deficiency

2014 ◽  
Vol 34 (02) ◽  
pp. 160-166 ◽  
Author(s):  
V. Ivaskevicius ◽  
A. Thomas ◽  
J. Oldenburg ◽  
A. Biswas
Keyword(s):  
Disseminated Intravascular Coagulation ◽  
Factor Xiii ◽  
Coagulation Factor ◽  
Coagulation Disorder ◽  
Factor Xiii Deficiency ◽  
Disease States ◽  
Coagulation Factor Xiii ◽  
Cross Links ◽  
Bleeding Episodes ◽  
Fxiii Deficiency

SummaryThe plasma circulating zymogenic coagulation factor XIII (FXIII) is a protransglutaminase, which upon activation by thrombin and calcium cross-links preformed fibrin clots/fibrinolytic inhibitors making them mechanically stable and less susceptible to fibrinolysis. The zymogenic plasma FXIII molecule is a heterotetramer composed of two catalytic FXIII-A and two protective FXIII-B subunits. Factor XIII deficiency resulting from inherited or acquired causes can result in pathological bleeding episodes. A diverse spectrum of mutations have been reported in the F13A1 and F13B genes which cause inherited severe FXIII deficiency. The inherited severe FXIII deficiency, which is a rare coagulation disorder with a prevalence of 1 in 4 million has been the prime focus of clinical and genetic investigations owing to the severity of the bleeding phenotype associated with it. Recently however, with a growing understanding into the pleiotropic roles of FXIII, the fairly frequent milder form of FXIII deficiency caused by heterozygous mutations has become one of the subjects of investigative research. The acquired form of FXIII deficiency is usually caused by generation of autoantibodies or hyperconsumption in other disease states such as disseminated intravascular coagulation. Here, we update the knowledge about the pathophysiology of factor XIII deficiency and its therapeutic options.

Factor XIII Deficiency As Underlying Cause Of Unexplained Bleeding

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4776-4776
Author(s):  
Marta Ruiz Mercado ◽  
Silvia Verdesoto Cozzarelli ◽  
Cristina Calderón-Cabrera ◽  
Ramiro Núñez Vázquez ◽  
Reyes Jiménez Bárcenas ◽  
...  
Keyword(s):  
Intracranial Hemorrhage ◽  
Factor Xiii ◽  
Conflicts Of Interest ◽  
Coagulation Factor ◽  
Spontaneous Remission ◽  
Coagulation Disorder ◽  
Factor Xiii Deficiency ◽  
Congenital Deficiency ◽  
Mucocutaneous Bleeding ◽  
Fxiii Deficiency

Introduction Factor XIII deficiency (FXIII) is an uncommon coagulation disorder. Congenital FXIII deficiency, generally due to mutations in F13A1 gene, presents with early life- threating hemorrhages in homozygotes. Acquired deficiency, a more rare state, has been associated with certain drugs and inhibitors against FXIII. Materials and methods We retrospectively analyzed 47 patients (male:female 1:1.3). Study criteria were unexplained hemorrhage, mainly after surgery, or spontaneous intracranial bleeding at perinatal period and no relevant findings in conventional haemostasia assays, from 01/01/2010 to 15/07/2013. FXIII measure was performed by a functional method. Results 20 out of 47 patients (42.5%) other abnormalities that might contribute to bleeding were detected: 13 had primary haemostasis disorders and 7 had low levels of a coagulation factor different from FXIII. In 10 patients, FXIII deficiency was observed: 4 congenital and 6 acquired. In all acquired deficiencies, the presence of an inhibitor was discarded. Patients with congenital FXIII deficiency, had mucocutaneous bleeding in 75% of cases and hemorrhage after surgery in 50%. However, there was no intracranial hemorrhage. In acquired deficiency (median FXIII 44.5 U/dl at first diagnostic work up), mucocutaneous bleeding appeared in 40% patients and postoperative and intracranial hemorrhage in 100%. In 8/ 10 patients FXIII concentrate was administered, achieving bleeding control in 7. In 3 cases of congenital deficiency, prophylactic substitutive therapy was started enabling a cessation of new bleeding episodes, except for a posttraumatic muscle hematoma; median FXIII levels reached 6.8 U/ dL. 2 patients with acquired deficiency died of non-hemorrhagic complications, 3 patients developed spontaneous remission of the deficiency in a median time of 2 months and 1 is still receiving substitutive therapy. Conclusions In congenital deficiency, maintenance of FXIII through levels in the range of 5-10% is enough to avoid bleeding manifestations. The acquired deficiencies have at least the same frequency as congenital, develop hemorrhage episodes at higher levels of factor and respond to therapy in a thrifty way. For those reasons, tests for FXIII are essential for diagnosis in high index clinical suspicious cases, such as unexplained bleeding. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Factor XIII deficiency leading to preseptal haematoma post-strabismus surgery

2019 ◽  
Vol 12 (11) ◽  
pp. e231457
Author(s):  
Mayank Jain ◽  
Ramesh Kekunnaya ◽  
Akshay Badakere
Keyword(s):  
Factor Xiii ◽  
Fresh Frozen Plasma ◽  
Strabismus Surgery ◽  
Rare Form ◽  
Factor Xiii Deficiency ◽  
Fresh Frozen ◽  
History Of ◽  
Frozen Plasma ◽  
Fxiii Deficiency ◽  
Routine Coagulation

A young girl with constant exotropia was planned for surgery. Thorough preoperative workup was done and the patient underwent strabismus surgery. The girl developed preseptal haematoma on the third postoperative day with marked chemosis and oozing of blood from the conjunctival cul-de-sac. A history of factor XIII (FXIII) deficiency was later revealed by the caretakers. The patient was admitted and fresh frozen plasma was transfused for 5 days along with intravenous tranexamic acid. Orbital ultrasound and CT scan were done to confirm the location of the haematoma. The child improved significantly after 5 days and the proptosis subsided. FXIII deficiency is a rare form of bleeding disorder that is not revealed on routine coagulation profile tests. Fresh frozen plasma and recombinant FXIII are now available for treatment.

Comparison of coagulation factor XIII content and concentration in cryoprecipitate and fresh-frozen plasma

Transfusion ◽  
2009 ◽  
Vol 49 (4) ◽  
pp. 765-770 ◽  
Author(s):  
Jonathan S.C. Caudill ◽  
William L. Nichols ◽  
Elizabeth A. Plumhoff ◽  
Sandra L. Schulte ◽  
Jeffrey L. Winters ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Coagulation Factor ◽  
Fresh Frozen Plasma ◽  
Coagulation Factor Xiii ◽  
Fresh Frozen ◽  
Frozen Plasma

Factor XIII Deficiency - A Case Report with Review of Literature

JMS SKIMS ◽  
2009 ◽  
Vol 12 (2) ◽  
pp. 53-55
Author(s):  
Javaid Rasool ◽  
Samoon Jeelani ◽  
Sajad Geelani ◽  
Abdul Rashid Lone ◽  
Afaq Ahmad ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Intracranial Haemorrhage ◽  
Neonatal Period ◽  
Fresh Frozen Plasma ◽  
Bleeding Diathesis ◽  
Review Of Literature ◽  
Factor Xiii Deficiency ◽  
Fresh Frozen ◽  
History Of ◽  
Frozen Plasma

Factor XIII deficiency is a rare disorder and these patients present with bleeding diathesis in the neonatal period. An 18 days old male child was brought with the history of umbilical stump bleeding. Two previous siblings had died in the neonatal period of an unknown cause, possibly because of intracranial haemorrhage and another at the age of 6 years of unknown cause. Investigations revealed Factor XIII deficiency. He was put on Fresh Frozen Plasma (FFP) support as he could not afford Fibrogammin and currently receives 6 weekly FFP and is doing well. J Med Sci 2009;12(2):53-55.

Comparison of Factor XIII Concentration in Cryoprecipitated Plasma Versus Fresh Frozen Plasma.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4169-4169
Author(s):  
J. S. Caudill ◽  
W. L. Nichols ◽  
E. A. Plumhoff ◽  
S. L. Schulte ◽  
J. L. Winters ◽  
...  
Keyword(s):  
Factor Viii ◽  
Factor Xiii ◽  
Solid Phase ◽  
Control Measure ◽  
Coagulation Factor ◽  
Fresh Frozen Plasma ◽  
Binding Activity ◽  
The Other ◽  
Fresh Frozen ◽  
Frozen Plasma

Abstract BACKGROUND: Coagulation factor XIII deficiency, in either its acquired or inherited form, is a rare cause of abnormal bleeding. In patients with Factor XIII (F XIII) deficiency, recommended means of factor replacement include infusion of fresh frozen plasma (FFP), cryoprecipitated plasma (Cryo), or F XIII concentrates1. Comparisons of F XIII concentration in FFP and Cryo are not well defined. To aid management of F XIII deficiency, we measured F XIII activity and antigen in FFP and Cryo. In addition, we determined concentrations of fibrinogen, factor VIII (F VIII) and von Willebrand factor (VWF), including antigen (VWF:Ag), ristocetin cofactor activity (VWF:RCo) and collagen binding activity (VWF:CB). STUDY DESIGNS AND METHODS: 10 bags each of FFP and of Cryo from blood group O donors obtained from the Mayo Clinic Division of Transfusion Medicine blood bank, were analyzed. F XIII activity was assayed by ELISA detecting activated F XIII-mediated amine incorporation into solid phase fibrinogen (Pefakit, Pentapharm). F XIII antigen was measured using radial immunodiffusion (The Binding Site). Fibrinogen was measured by Clauss kinetic clotting assay (Fibriquik, Biomerieux) and also by endpoint delta OD derived from the prothrombin time (ACL, Instrumentation Lab). F VIII was measured by 1-stage APTT-based assay; VWF:Ag by automated LIA (Diagnostica Stago); VWF:RCo by aggregometry of washed platelets; and VWF:CB by ELISA (Corgenix). RESULTS: Mean concentrations of F XIII activity were 60 U/bag (+/−30) in Cryo and 288 U/bag (+/− 77) in FFP. F XIII antigen concentrations paralleled the activity results and are depicted in Table 1, which also includes results for the other analytes. The mean fluid volumes of Cryo and FFP were 21.3 ml/bag (+/− 2.7) and 245 mL/bag (+/− 29), respectively. Table 1. Comparison of Hemostatic Components in Cryoprecipitated Plasma (Cryo) versus Fresh Frozen Plasma (FFP) Cryoprecipitate Fresh Frozen Plasma Component Mean (SD) Mean (SD) Factor XIII activity 60 U/bag (+/− 30) 288 U/bag (+/− 77) Factor XIII antigen 0.65 mg/bag (+/− 0.23) 2.36 mg/bag (+/− 0.76) Factor VIII 133 U/bag (+/− 36.5) 265 U/bag (+/− 83) Fibrinogen Clauss 184 mg/dl (+/− 44) 725 mg/dl (+/− 199) Fibrinogen ACL 319 mg/dl (+/− 76) 864 mg/dl (+/− 327) VWF:Ag 181 U/bag (+/− 53) 218 U/bag (+/− 70) VWF:RCo 168 U/bag (+/− 34) 221 U/bag (+/− 65) VWF:CB 165 U/bag (+/− 40) 208 U/bag (+/− 71) Bag volume 21.3 ml/bag (+/− 2.7) 245 ml/bag (+/− 29) CONCLUSION: In contrast to some of the other cryoprecipitable coagulation proteins, F XIII is only mildly enriched in Cryo when compared with FFP (about 2- to 3-fold). Although both products are practical means of F XIII replacement, and F XIII is somewhat enriched in Cryo, FFP may be a preferred product for F XIII replacement when infusion volume is not a major consideration (eg, in adults versus small children) and risks of exposure to multiple donors are considered. While Cryo is no longer recommended as the product of choice for VWF (or F VIII) replacement, our studies also demonstrate that Cryo is significantly enriched in VWF (which is not routinely assayed as a quality control measure for Cryo, in contrast to requirements for F VIII and fibrinogen content).

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