scholarly journals Effects of factor XIII deficiency on thromboelastography. Thrombelastography with calcium and lysis by addition of streptokinase is more sensitive than solubility tests

2016 ◽  
Vol 8 ◽  
pp. e2016037 ◽  
Author(s):  
Marta E Martinuzzo
Keyword(s):  
Acetic Acid ◽  
Factor Xiii ◽  
Maximum Amplitude ◽  
Clot Lysis ◽  
Thrombin Time ◽  
Spontaneous Bleeding ◽  
A Subunit ◽  
One Year ◽  
Fxiii Deficiency

Background:Homozygous or double heterozygous factor XIII (FXIII) deficiency is characterized by soft tissue hematomas, intracranial and delated spontaneous bleeding. Alterations of thromboelastographic (TEG) parameters in these patients have been reported. The aim of the study was to show results of TEG, TEG Lysis (Lys 60) induced by subthreshold concentrations of streptokinase (SK), and to compare them to the clot solubility studies results in samples of a1 year old girl with homozygous or double heterozygous FXIII deficiency.Materials and Methods:Case: A one year girl with history of bleeding from umbilical cord. During her first year of live several hematomas in soft upper limb tissue after punctures for vaccination and a gluteal hematoma appeared. One additional sample of a heterozygous and three of acquired FXIII deficiency were also evaluated.Materials and Methods: clotting tests, von Willebrand factor (vWF) antigen and activity,  plasma FXIII-A (pFXIII-A) subunit were measured by an immunoturbidimetric assays in a foto-optical coagulometer. Solubility tests were performed with Ca2+-5 M urea and thrombin-2% acetic acid. Basal and post FXIII concentrate infusion samples were studied. TEG was performed with CaCl2 or CaCl2 + SK (3.2 U/mL) in a Thromboelastograph. Results: Prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time, fibrinogen, factor VIIIc, vWF and platelet aggregation were normal. Antigenic pFXIII-A subunit was < 2%. TEG presented a normal reaction time (R), 8 min, prolonged k (14 and11min), low Maximum amplitude (MA), 39 and 52 mm,  and Clot Lysis (Lys60) slightly increased (23 and 30%) at diagnosis and post FXIII concentrate infusion (pFXIII-A= 37%), respectively. In Sample at diagnosis clot solubility was abnormal, 50 and 45 min with Ca-Urea and thrombin-acetic acid, respectively, but normal (>16 hours) 1 day post FXIII infusion. Analysis of FXIII deficient and normal plasma mixtures (< 2 -102% of pFXIII-A), showed that Ca-urea solubility was abnormal at pFXIII-A < 9%, thrombin-acetic acid at pFXIII-A<18%, but TEG MA and elasticity at 23% and Lys60 with SK at pFXIII-A< 40%.Conclusions: TEG parameters MA and elasticity, and Lys 60 in TEG with Ca2+ and in TEG Ca2+ and SK are more sensitive to low levels of pFXIII than solubility tests. The increased Lys60 induced by subthreshold concentration of SK could probably reflect the clot characteristics “in vivo” in many patients with pFXIII levels between 5-40% and could be potentially considered as screening test.

Factor XIII A subunit-deficient mice developed severe uterine bleeding events and subsequent spontaneous miscarriages

Blood ◽  
2003 ◽  
Vol 102 (13) ◽  
pp. 4410-4412 ◽  
Author(s):  
Shiori Koseki-Kuno ◽  
Mitsunori Yamakawa ◽  
Gerhard Dickneite ◽  
Akitada Ichinose
Keyword(s):  
Molecular Pathology ◽  
Factor Xiii ◽  
Vaginal Bleeding ◽  
Critical Role ◽  
Uterine Bleeding ◽  
Bleeding Events ◽  
A Subunit ◽  
Deficient Mice ◽  
Fxiii Deficiency

AbstractTo understand the molecular pathology of factor XIII (FXIII) deficiency in vivo, its A subunit (FXIIIA)-knockout (KO) mice were functionally analyzed. Although homozygous FXIIIA female KO mice were capable of becoming pregnant, most of them died due to excessive vaginal bleeding during gestation. Abdominal incisions revealed that the uteri of the dead mice were filled with blood and that some embryos were much smaller than others within a single uterus. A series of histologic examinations of the pregnant animals suggested that massive placental hemorrhage and subsequent necrosis developed in the uteri of the FXIIIA KO mice on day 10 of gestation. This was true regardless of the genotypes of fetuses. These results are reminiscent of spontaneous miscarriage in pregnant humans with FXIII deficiency and indicate that maternal FXIII plays a critical role in uterine hemostasis and maintenance of the placenta during gestation. (Blood. 2003;102:4410-4412)

Impaired clot retraction in factor XIII A subunit–deficient mice

Blood ◽  
2010 ◽  
Vol 115 (6) ◽  
pp. 1277-1279 ◽  
Author(s):  
Kohji Kasahara ◽  
Masayoshi Souri ◽  
Mizuho Kaneda ◽  
Toshiaki Miki ◽  
Naomasa Yamamoto ◽  
...  
Keyword(s):  
Knockout Mice ◽  
Factor Xiii ◽  
Platelet Rich Plasma ◽  
Tissue Transglutaminase ◽  
Adenosine Diphosphate ◽  
Wild Type ◽  
Clot Retraction ◽  
A Subunit ◽  
Fxiii Deficiency

Abstract Factor XIII (FXIII) is a plasma transglutaminase that cross-links fibrin monomers, α2-plasmin inhibitor, and so forth. Congenital FXIII deficiency causes lifelong bleeding symptoms. To understand the molecular pathology of FXIII deficiency in vivo, its knockout mice have been functionally analyzed. Because prolonged bleeding times, a sign of defective/abnormal primary hemostasis, were commonly observed in 2 separate lines of FXIII A subunit (FXIII-A) knockout mice, a possible role or roles of FXIII in platelet-related function was investigated in the present study. Although platelet aggregation induced by adenosine diphosphate or collagen was normal, clot retraction (CR) was lost in the platelet-rich plasma (PRP) of FXIII-A knockout mice. In contrast, there was no CR impairment in the PRP of tissue transglutaminase-knockout mice compared with that of wild-type mice. Furthermore, a transglutaminase inhibitor, cystamine, halted CR in the PRP of wild-type mice. These results indicate that the enzymatic activity of FXIII is necessary for CR, at least in mice.

Male-specific cardiac pathologies in mice lacking either the A or B subunit of factor XIII

2008 ◽  
Vol 99 (02) ◽  
pp. 401-408 ◽  
Author(s):  
Masayoshi Souri ◽  
Shiori Koseki-Kuno ◽  
Naoki Takeda ◽  
Mitsunori Yamakawa ◽  
Yasuchika Takeishi ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Cardiac Fibrosis ◽  
Survival Rates ◽  
Heart Tissue ◽  
Wild Type ◽  
B Subunit ◽  
Reparative Process ◽  
Male Specific ◽  
Fxiii Deficiency

SummaryFactor XIII (FXIII) is a proenzyme of plasma transglutaminase consisting of enzymatic A subunits (FXIII-A) and non-catalytic B subunits (FXIII-B), and acts in haemostasis and wound healing. We generated mice lacking either FXIII-A or FXIII-B to investigate the physiological functions of FXIII in vivo. A longitudinal study was carried out using the gene-targeted mice to explore the possible effects of FXIII deficiency on aging. Survival rates of FXIII-A-/- males decreased to approximately 50% at 10 months after birth, although most FXIII-A-/- females and both genders of wild-type mice survived. Four FXIII-A-/- males died of severe intra-thoracic haemorrhage, and a large haematoma was found in their hearts. Haemorrhage, haemosiderin deposition and/or fibrosis were observed in the hearts of other dead FXIII-A-/- males. Fibrosis together with haemosiderin deposition was also found in the hearts of FXIII-A-/- males sacrificed. The in-vivo cardiac function was normal in FXIII-A-/- mice when compared with wild-type mice despite the presence of significant cardiac fibrosis. Although survival rates for both genders of the FXIII-B-/- and wild-type mice did not differ, mild fibrosis together with haemosiderin deposits were only found in the hearts of the sacrificed FXIII-B-/- males. Carditis and fibrosis in FXIII-deficient mice might be caused by a faulty or delayed reparative process that was initiated by abnormal haemorrhagic events within heart tissue. It is important therefore to examine possible cardiac involvement in human patients with congenital FXIII deficiency.

A Novel 3-Base Pair 1834–1836 AAG-Deletion (Lys570Del) Mutation In Factor XIII A Subunit Associated with Factor XIII Deficiency

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1412-1412
Author(s):  
Anamika Singh ◽  
A. Koneti Rao
Keyword(s):  
Factor Xiii ◽  
Bleeding Tendency ◽  
Compound Heterozygosity ◽  
Factor Xiii Deficiency ◽  
Catalytic Core ◽  
A Subunit ◽  
A Chain ◽  
The Impact ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Abstract Abstract 1412 Factor XIII is a transglutaminase that cross-links proteins in plasma, vascular matrix, endothelial cells, platelets and monocytes, and plays a role in atherosclerosis, wound healing, and inflammation. Plasma FXIII molecule is a hetero-tetramer consisting of two catalytic A-subunits and two B-subunits that act as carrier molecules. The gene encoding FXIII A subunit comprises of 15 exons spanning 160 kb and the mature protein contains 731 amino acids. FXIII deficiency is a rare autosomal recessive disorder affecting ∼1 in 1–3 million people. It is characterized by bleeding, impaired wound repair and spontaneous abortions. We report studies from a family where two children son (13 yrs) and daughter (11 yrs) have had a lifelong bleeding tendency and spontaneous intracranial hemorrhages. Both parents were asymptomatic and there was no consanguinity. The results of routine laboratory tests, prothrombin time and activated partial thromboplastin time were normal in all subjects. The plasma FXIII activity by a commercially available chromogenic assay was 5% in the son and <3% in the daughter (normal range 57–192%). The FXIII activity in the father and mother were 198% and 74%, respectively. We have identified a novel deletion mutation, which has not been reported so far in FXIII deficiency. Leukocyte RNA was isolated from the buffy-coat and cDNA was obtained by reverse-transcription PCR using SuperScript First-Strand Synthesis System. The amplified products were cloned in pGEM-T vector (Promega) and sequenced on an automated gene-sequencer. Both children and the father have a novel 3 bp AAG-deletion position 1834–1836 nt in FXIII A chain. This mutation causes a lysine 570 deletion in the ß-barrel 1 of Factor XIII A subunit and has not been reported so far. It may lead to protein misfolding resulting in an unstable protein, and low levels of FXIII. The second major change detected in the two siblings was a A/T substitution at position 737 nt causing Tyr204Phe substitution in the two siblings; this was present in the mother in a heterozygous condition. This mutation has been previously reported in FXIII deficiency and linked to increased risk of haemorrhagic stroke in young women and of miscarriages. The compound heterozygosity for Lys570Del and Tyr204Phe substitution observed in both children is the likely cause of Factor XIII deficiency leading to lifelong bleeding condition. In addition to above, the father had Val34Leu polymorphism, previously reported to be associated with resistance to myocardial infarction. This polymorphism is present in ∼20% of white European, 40% of Pima Native American and 13% of South Asian populations. The mother also had a known A/C polymorphism at 1119 nt position for a synonymous Pro332Pro change. We also found 3 other variations in FXIII A chain in this family. The daughter has Glu216Gly and Asp267Asn change in the protein corresponding to alterations at nucleotide 773 (A/G) and 925 (A/G), respectively. The son and mother had a substitution at 1442 nt (T/C) leading to a Leu439Pro change. These variations, Glu216Gly, Asp267Asn and Leu439Pro found in the two children (Leu439Pro also in mother) are present in the catalytic core domain of the Factor XIII A chain. All of the polymorphisms or mutations reported in this study were heterozygous in the studied subjects. FXIII gene mutations and polymorphisms result in a high level of heterogeneity of disease presentation. Other point mutations in the FXIII A catalytic core as well as mutations in ß-barrel 1 region have been described in association with a hemorrhagic state in FXIII deficiency. Our study documents a new 3-bp 1834–1836 nt AAG-deletion (Lys570Del) in association with FXIII deficiency. We suggest that compound heterozygosity for Lys570Del and Tyr204Phe is the cause of FXIII deficiency in our patients. Further structure-function studies will aid in understanding the impact of these amino acid substitutions or deletions on FXIII function and on the associated bleeding diathesis. Disclosures: No relevant conflicts of interest to declare.

scholarly journals A familial hemorrhagic diathesis in a Dutch family: an inherited deficiency of alpha 2-antiplasmin

Blood ◽  
1982 ◽  
Vol 59 (6) ◽  
pp. 1169-1180
Author(s):  
C Kluft ◽  
E Vellenga ◽  
EJ Brommer ◽  
G Wijngaards
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Gene ◽  
Coagulation System ◽  
Hemorrhagic Diathesis ◽  
Bleeding Tendency ◽  
Spontaneous Bleeding ◽  
Normal Plasma

This study concerns a case of congenital homozygous deficiency in alpha 2-antiplasmin associated with a severe hemorrhagic diathesis. Heterozygous family members also show a mild bleeding tendency. The propositus is a 17-yr-old male born of white parents and showing a severe hemorrhagic diathesis characterized by spontaneous bleeding in the joints since his early childhood. He was originally suspected of having factor XIII deficiency but was found to have normal functions of the coagulation system and the platelets. Except for alpha 2- antiplasmin, all protease inhibitors showed normal plasma values. With the immediate plasmin inhibition test (synthetic substrate), only 2% of normal functional inhibition was detected, while no reaction with monospecific antisera for alpha 2-antiplasmin was observed. Inhibition of activator-induced fibrinolysis in vitro was reduced. No enhanced spontaneous in vitro fibrinolysis was detected nor were there signs of increased in vivo fibrinolysis during an asymptomatic period. During recovery from a hemorrhagic episode, signs of previous consumption of antithrombin III, alpha 2-macroglobulin, factor XIII, and inter-alpha- trypsin inhibitor were noted. After the diagnosis was made, treatment with tranexamic acid (4 daily doses of 1 g) was effective for about 2 yr. Among the 37 family members studied, a separate group of 16 individuals (including the father and mother of the propositus) with approximately one-half normal plasma levels of alpha 2-antiplasmin both functionally (59% +/- 6%) and immunologically 48% +/- 8%) was discovered. The defect appeared to be inherited as an autosomal recessive gene; no ancestral consanguinity could be shown. The group of apparent heterozygotes as a whole showed increased levels of alpha 1- antitrypsin (142% +/- 39%; p less than 0.01), indicating systemic consequences of the deficiency and reduced binding (+/- 50%) of alpha 2- antiplasmin to fibrin. Six exhibited a mild hemorrhagic diathesis for which no explanation was provided by routine screening of coagulation and platelet functions; also, within the group of heterozygotes, the occurrence of the bleeding tendency did not correlate with differences in residual alpha 2-antiplasmin levels and functions. It is concluded that not only the absence of alpha 2-antiplasmin but also a reduction in its plasma level to +/- 60% of normal may predispose to a hemorrhagic diathesis.

Acquired Factor XIII Deficiency in the Inpatient Setting: Clinical Suspicion, Impact and Treatment: Retrospective Case Series

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1415-1415
Author(s):  
Fernando Chuliber ◽  
Natalia Paola Schutz ◽  
Victoria Otero ◽  
Luis Barrera ◽  
Diana Altuna ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Case Series ◽  
Screening Tests ◽  
Coagulation Cascade ◽  
Inpatient Setting ◽  
Retrospective Case ◽  
Factor Xiii Deficiency ◽  
Spontaneous Bleeding ◽  
Retrospective Case Series ◽  
Fxiii Deficiency

Abstract Introduction: Activated factor XIII (FXIII) stabilizes fibrin clots at the end of the coagulation cascade by bridging fibrin molecules. Disproportionate surgery related bleeding has been reported in association with FXIII deficiency, in patients with normal coagulopathies screening tests, and without a history of previous bleedings. Methods: Retrospective case series. We performed immunological factor XIIIA (FXIIIA) studies in the inpatient setting of the Hospital Italiano de Buenos Aires, between January 2014 and March 2016. FXIIIA below 50% were considered deficient. Patients with suspicion of congenital Factor XIII deficiency or 2 years old or less were excluded. Descriptive statistics were used. Populations were compared with chi-square, Fisher and T test, or Mann Whitney tests with Stata13 software. Results: FXIII was studied in 52 patients; 37 of these (26 females and 11 males) met inclusion and exclusion criteria. Median age was 43 years (range 9-81). Twenty two patients were studied because of disproportionate surgery related bleeding, 11 because of spontaneous bleeding; and 4 not specified. All patients presented normal coagulopathies screening tests, normal Von Willebrand factor and ristocetine cofactor activity and normal platelet function tests. Eleven patients (30%) had FXIIIA less than 50%. Statistically significant differences between groups were found for median drop in hematocrit points [3.5 (IQR 3-10) vs 1.5 (IQR 0-2, p=0.02)] and median number of red cell units transfused [4 (IQR 0-6) vs 0 (0-2), p=0.01]. Differences in rates of minor and major bleedings were not statistically significant. Only one patient of eleven presented FXIII deficiency associated spontaneous bleeding vs 8 out of 20 patients in the postsurgical setting. FXIII concentrate was used in two patients to treat persistent bleeding, resolving in less than 24 hours. Three patients died, none because of bleeding. Five of the 11 patients with FXIII deficiency returned to normal values when FXIII assay was repeated away from acute setting. Discussion: FXIII acquired deficiency is associated with disproportionate bleeding in postsurgical setting in patients without apparent coagulation defects. FXIII deficiency could be underdiagnosed. Patients with FXIII deficiency in our series had more hematocrit drop and more transfusion requirements. We found no association with spontaneous bleeding. Alltough deficiency could be transient, treatment with FXIII concentrate could be useful to manage serious, persistent or life threatening bleedings. Disclosures No relevant conflicts of interest to declare.

scholarly journals Molecular Mechanism of a Mild Phenotype in Coagulation Factor XIII (FXIII) Deficiency: A Splicing Mutation Permitting Partial Correct Splicing of FXIII A-Subunit mRNA

Blood ◽  
1997 ◽  
Vol 89 (4) ◽  
pp. 1279-1287 ◽  
Author(s):  
Hanna Mikkola ◽  
Laszlo Muszbek ◽  
Elina Laiho ◽  
Martti Syrjälä ◽  
Eija Hämäläinen ◽  
...  
Keyword(s):  
Molecular Mechanism ◽  
Factor Xiii ◽  
Splice Donor Site ◽  
Severe Bleeding ◽  
Minute Amount ◽  
Mild Phenotype ◽  
Stop Mutation ◽  
Mrna Transcripts ◽  
A Subunit ◽  
Fxiii Deficiency

AbstractCongenital factor XIII (FXIII) deficiency is potentially a severe bleeding disorder, but in some cases, the symptoms may be fairly mild. In this study, we have characterized the molecular mechanism of a mild phenotype of FXIII A-subunit deficiency in a Finnish family with two affected sisters, one of whom has even had two successful pregnancies without regular substitution therapy. In the screening tests for FXIII deficiency, no A-subunit could be detected, but by using more sensitive assays, a minute amount of functional A-subunit was seen. 3H-putrescine incorporation assay showed distinct FXIII activity at the level of 0.35% of controls, and also the fibrin cross-linking pattern in the patients clotted plasma showed partial γ-γ dimerization. In Western blot analysis, a faint band of full-length FXIII A-subunit was detected in the patients' platelets. The patients have previously been identified as heterozygotes for the Arg661 → Stop mutation. Here we report a T → C transition at position +6 of intron C in their other allele. The transition affected splicing of FXIII mRNA resulting in low steady state levels of several variant mRNA transcripts. One transcript contained sequences of intron C, whereas two transcripts resulted from skipping of one or two exons. Additionally, correctly spliced mRNA lacking the Arg661 → Stop mutation of the maternal allele could be detected. These results demonstrate that a mutation in splice donor site of intron C can result in several variant mRNA transcripts and even permit partial correct splicing of FXIII mRNA. Further, even the minute amount of correctly processed mRNA is sufficient for producing protein capable of γ-γ dimerization of fibrin. This is a rare example of an inherited functional human disorder in which a mutation affecting splicing still permits some correct splicing to occur and this has a beneficial effect to the phenotype of the patients.

scholarly journals A familial hemorrhagic diathesis in a Dutch family: an inherited deficiency of alpha 2-antiplasmin

Blood ◽  
1982 ◽  
Vol 59 (6) ◽  
pp. 1169-1180 ◽  
Author(s):  
C Kluft ◽  
E Vellenga ◽  
EJ Brommer ◽  
G Wijngaards
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Gene ◽  
Coagulation System ◽  
Hemorrhagic Diathesis ◽  
Bleeding Tendency ◽  
Spontaneous Bleeding ◽  
Normal Plasma

Abstract This study concerns a case of congenital homozygous deficiency in alpha 2-antiplasmin associated with a severe hemorrhagic diathesis. Heterozygous family members also show a mild bleeding tendency. The propositus is a 17-yr-old male born of white parents and showing a severe hemorrhagic diathesis characterized by spontaneous bleeding in the joints since his early childhood. He was originally suspected of having factor XIII deficiency but was found to have normal functions of the coagulation system and the platelets. Except for alpha 2- antiplasmin, all protease inhibitors showed normal plasma values. With the immediate plasmin inhibition test (synthetic substrate), only 2% of normal functional inhibition was detected, while no reaction with monospecific antisera for alpha 2-antiplasmin was observed. Inhibition of activator-induced fibrinolysis in vitro was reduced. No enhanced spontaneous in vitro fibrinolysis was detected nor were there signs of increased in vivo fibrinolysis during an asymptomatic period. During recovery from a hemorrhagic episode, signs of previous consumption of antithrombin III, alpha 2-macroglobulin, factor XIII, and inter-alpha- trypsin inhibitor were noted. After the diagnosis was made, treatment with tranexamic acid (4 daily doses of 1 g) was effective for about 2 yr. Among the 37 family members studied, a separate group of 16 individuals (including the father and mother of the propositus) with approximately one-half normal plasma levels of alpha 2-antiplasmin both functionally (59% +/- 6%) and immunologically 48% +/- 8%) was discovered. The defect appeared to be inherited as an autosomal recessive gene; no ancestral consanguinity could be shown. The group of apparent heterozygotes as a whole showed increased levels of alpha 1- antitrypsin (142% +/- 39%; p less than 0.01), indicating systemic consequences of the deficiency and reduced binding (+/- 50%) of alpha 2- antiplasmin to fibrin. Six exhibited a mild hemorrhagic diathesis for which no explanation was provided by routine screening of coagulation and platelet functions; also, within the group of heterozygotes, the occurrence of the bleeding tendency did not correlate with differences in residual alpha 2-antiplasmin levels and functions. It is concluded that not only the absence of alpha 2-antiplasmin but also a reduction in its plasma level to +/- 60% of normal may predispose to a hemorrhagic diathesis.

Acquired FXIII deficiency is associated with high morbidity

2021 ◽  
Author(s):  
Patricia Duque ◽  
Maite Chasco-Ganuza ◽  
Ariana Ortuzar ◽  
Carolina Almaraz ◽  
Estrella Terradillos ◽  
...  
Keyword(s):  
Major Bleeding ◽  
Factor Xiii ◽  
Surgical Patients ◽  
High Morbidity ◽  
Coagulation Test ◽  
Large Hospital ◽  
Spontaneous Bleeding ◽  
High Incidence ◽  
Fxiii Activity ◽  
Fxiii Deficiency

Background: A factor XIII (FXIII) level >30% is considered necessary to prevent spontaneous bleeding. Bleeding is also a risk in patients with acquired FXIII deficiency, but the hemostatic level of FXIII in this context remains to be determined. Material & Methods: We retrospectively analyzed all patients diagnosed with acquired FXIII deficiency at a large hospital over 3 years (study ID NCT04416594, http://www.clinicaltrials.gov) and assessed clinical data to identify the best cut-off point for FXIII activity to distinguish between low and high risk of major bleeding in a mixed medical and surgical population. Results: Of the 97 patients who experienced bleeding despite a normal coagulation test, 43.2% had FXIII activity <70%. FXIII activity was significantly lower in surgical patients and patients admitted to the intensive care unit (ICU). Low FXIII activity was significantly associated with long ICU stays and a high incidence of major bleeding. Conclusions: Acquired FXIII deficiency is associated with high morbidity. The hemostatic level of FXIII in the setting of acquired FXIII deficiency might be above 30%.

Factor XIII: Congenital Deficiency Factor XIII, Acquired Deficiency, Factor XIII A-Subunit, and Factor XIII B-Subunit

2014 ◽  
Vol 138 (2) ◽  
pp. 278-281 ◽  
Author(s):  
Anita Tahlan ◽  
Jasmina Ahluwalia
Keyword(s):  
Factor Xiii ◽  
Recurrent Miscarriage ◽  
Fresh Frozen Plasma ◽  
Screening Tests ◽  
Bleeding Tendency ◽  
Thrombin Time ◽  
Congenital Deficiency ◽  
Fresh Frozen ◽  
B Subunits ◽  
Fxiii Deficiency

Factor XIII (FXIII) is a transglutaminase consisting of 2 catalytic A subunits and 2 noncatalytic B subunits in plasma. The noncatalytic B subunits protect the catalytic A subunits from clearance. Congenital FXIII deficiency may manifest as a lifelong bleeding tendency, abnormal wound healing, and recurrent miscarriage. Acquired FXIII deficiency, with significant reductions in FXIII levels, has been reported in several medical conditions. The routine screening tests for coagulopathies—prothrombin time, activated partial thromboplastin time, and thrombin time—do not show abnormalities in cases of FXIII deficiency. A quantitative, functional, FXIII activity assay that detects all forms of FXIII deficiency should be used as a first-line screening test. Treatment consists of recombinant FXIII or FXIII concentrate. If these are unavailable, then fresh-frozen plasma and cryoprecipitates may be used. Factor XIII has a long half-life; therefore, the patients can lead near-normal lives with regular replacements. Patients with acquired FXIII deficiency with inhibitors need immunosuppressive therapy in addition to factor replacements.

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