scholarly journals Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Gianluca Sottilotta ◽  
Francesca Luise ◽  
Vincenzo Oriana ◽  
Angela Piromalli ◽  
Rosa Santacroce ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Surgical Procedures ◽  
Factor Xiii ◽  
Bleeding Disorder ◽  
Factor Xiii Deficiency ◽  
Fxiii Deficiency ◽  
Congenital Factor

Despite many articles regarding the antihemorrhagic treatment and prophylaxis, there is a lack of experience about how to best conduct major surgical procedures in patients with congenital factor XIII (FXIII) deficiency. Here we report a case of surgery (right inguinal hernia, complicated by heaviness and pain) performed in a patient with FXIII deficiency, receiving recombinant FXIII prophylaxis (Catridecacog 35 UI/kg every 28±2 days). Our experience shows that Catridecacog can be used safely and effectively not only for continued prophylaxis but also in surgery and adds to the very limited body of evidence currently available on surgery in this bleeding disorder.

Congenital Factor XIII Deficiency as Cause for Intracraneal Hemorrhage.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4208-4208
Author(s):  
Maria Angeles Dasi ◽  
Bienvenida Argiles ◽  
Ana R Cid ◽  
M. Carmen Carreras ◽  
J. Antonio Aznar ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Subdural Hematoma ◽  
Factor Xiii ◽  
Conflicts Of Interest ◽  
Hemorrhagic Diathesis ◽  
Minor Trauma ◽  
Factor Xiii Deficiency ◽  
Coagulation Tests ◽  
Fxiii Deficiency ◽  
Congenital Factor

Abstract Abstract 4208 Severe congenital factor XIII (FXIII) deficiency is an autosomal recessive disease of with a low prevalence in the general population (3-5 cases per million), associated with generally severe hemorrhagic diathesis, where the presence of intracraneal hemorrhage (ICH) is much higher than in other coagulopathologies such as hemophilia A or B. However, the basic coagulation tests are normal, which could delay the diagnosis. We present three cases of severe congenital FXIII deficiency (not diagnosed when referred to our center) with severe hemorrhagic pathology. These patients had normal basic coagulation tests and did not have a family bleeding history. The table show the results. Table Patient 1 Patient 2 Patient 3 Date of birth 1959 1978 2006 Sex Female Female Female Age at diagnosis 15 years old 12 years old 18 months old Cause of patient remission Ankle hemarthrosis Seizures Subdural hematoma Subdural hematoma Prior hemorrhagic history -umbilical cord bleeding-frontal hematoma requiring surgical management at 12 months-bleeding with dentition -umbilical cord bleeding-hematoma in buttock requiring RBC transfusion for anemia.-hemarthrosis in both knees -umbilical cord bleeding-growing cephalohematoma until 3rd week of life-hematoma by venipuncture lasting 2-3 weeks at 6 months.-delayed healing-Subdural hematoma after minor trauma 3 days prior. basic coagulation tests (PT, APTT, TT, fibrinogen) Normal Normal Normal Level of functional FXIII <1% < 5 % < 5 % Initial treatment Plasma Plasma FXIII concentrate Prophylaxis -Plasma: 2 Units every 6 weeks -FXIII concentrate every 4 weeks (since 1994) FXIII concentrate every 4 weeks FXIII concentrate every 3 weeks Evolution Major ICH at 30 years old. (had suspended prophylactic treatment in1989) Favorable evolution without consequences. Favorable evolution without consequences. COMMENTS Congenital Factor XIII deficiency, although infrequent, should be included in the differential diagnosis of hemorrhagic processes with normal coagulation tests, especially if triggered spontaneously or in a disproportionate manner (in quantity and/or duration). Bleeding of the umbilical cord in the first days or weeks after birth is characteristic of this deficiency (present in 80% of cases). The prophylactic administration of Factor XIII is fundamental due to the frequency of intracranial hemorrhaging. Disclosures: No relevant conflicts of interest to declare.

Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder

2006 ◽  
Vol 95 (01) ◽  
pp. 77-84 ◽  
Author(s):  
Verena Schroeder ◽  
Esther Meili ◽  
Trinh Cung ◽  
Peter Schmutz ◽  
Hans Kohler
Keyword(s):  
Amino Acid ◽  
Factor Xiii ◽  
Bleeding Disorder ◽  
Single Amino Acid ◽  
Factor Xiiia ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Single Amino Acid Change ◽  
A Subunit ◽  
Congenital Factor

SummaryIn 1960, the first case report on factor XIII deficiency was published describing a seven-year-old Swiss boy with a so far unknown bleeding disorder. Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. In the present study, we describe six novel mutations in the factor XIII A-subunit gene. Additionally, we present the molecular characterisation of the first described patient with congenital factor XIII deficiency. The six novel mutations include a small deletion, Glu202 del G, leading to a premature stop codon and truncation of the protein, and a splice site mutation at the exon 10/intron 10 boundary, +1G/A, giving rise to an incorrect spliced mRNA lacking exons 10 and 11. The remaining four mutations are characterised by the single amino acid changes Met159Arg, Gly215Arg, Trp375Cys, and His716Arg, and were expressed in COS-1 cells. Antigen levels and activity of the mutants were significantly reduced compared to the wild-type. The patient described in 1960 also shows a single amino acid change, Arg77Cys. Structural analysis of all mutant enzymes suggests several mechanisms leading to destabilisation of the protein.

New Families with Hereditary Hemorrhagic Trait due to Deficiency of Fibrin Stabilizing Factor (F. XIII)

1968 ◽  
Vol 20 (03/04) ◽  
pp. 534-541 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Inheritance ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
Congenital Factor

SummarySevere hemorrhagic disorder due to congenital factor XIII deficiency is described in two unrelated Norwegian girls.Plasma cephalin time was for both patients extraordinarily short during episodes of bleeding and hematomas. No such hyperactivity reaction was demonstrable in unaffected condition some months later.Estimations of blood factor XIII levels revealed a partial defect in the parents of both children, and also in some other family members, consistent with an autosomal incompletely recessive inheritance of the defect. Some of the presumptive heterozygotes had a history of light bleeding phenomenons; whether this was related to their partial lack of factor XIII is so far uncertain.

Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy

1987 ◽  
Vol 55 (1) ◽  
pp. 45-48 ◽  
Author(s):  
F. Rodeghiero ◽  
G. C. Castaman ◽  
E. Bona ◽  
M. Ruggeri ◽  
E. Dini
Keyword(s):  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
Successful Pregnancy ◽  
Congenital Factor

Factor XIII Deficiency and Intracranial Bleed: Surgical Management and Prophylaxis with Cryoprecipitate

2021 ◽  
Author(s):  
Sunil V. Furtado ◽  
Pranoy Hegde ◽  
Rasmi Palassery ◽  
B. P. Karunakara
Keyword(s):  
Factor Xiii ◽  
Perioperative Management ◽  
Severe Headache ◽  
Resonance Imaging ◽  
Factor Xiii Deficiency ◽  
Limb Weakness ◽  
High Propensity ◽  
Intracranial Bleed ◽  
The Brain ◽  
Fxiii Deficiency

AbstractFactor XIII (FXIII) deficiency is a rare bleeding disorder with affected patients having high propensity for intracranial hemorrhage. A 12-year-old girl presented with severe headache, limb weakness, and rapidly worsening sensorium over 4 days. Magnetic resonance imaging of the brain and computed tomography (CT) of the head showed intraparenchymal bleed. Patient had normal coagulation profile and abnormal FXIII level. The perioperative management included cryoprecipitate transfusion to bring the FXIII value to 74%. She underwent craniotomy and evacuation of the hematoma. Postoperatively, she received prophylaxis against rebleed with cryoprecipitate. In the absence of FXIII concentrate, correction of FXIII deficiency is possible with cryoprecipitate in emergent situations.

scholarly journals A Novel Molecular Mechanism of Severe Congenital Factor XIII Deficiency

2020 ◽  
Author(s):  
Jingjing Han ◽  
Miao Jiang ◽  
Jian Su ◽  
Ziqiang Yu ◽  
Xia Bai ◽  
...  
Keyword(s):  
Molecular Mechanism ◽  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
Congenital Factor

scholarly journals How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency

2020 ◽  
Author(s):  
Hojat Shahraki ◽  
Akbar Dorgalaleh ◽  
Majid Fathi ◽  
Shadi Tabibian ◽  
Shahram Teimourian ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Founder Effect ◽  
Factor Xiii ◽  
Haplotype Analysis ◽  
Recurrent Miscarriage ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphisms ◽  
High Incidence ◽  
Fxiii Deficiency ◽  
Congenital Factor

Congenital factor XIII (FXIII) deficiency is an extremely rare bleeding disorder (RBD) with estimated prevalence of one per 2 million in the general population. The disorder causes different clinical manifestations such as intracranial hemorrhage (ICH), recurrent miscarriage, umbilical cord bleeding, etc. High incidence of the disorder might be due to founder effect. To assess founder effect, haplotype analysis is an important step. For this purpose, suitable and reliable genetic markers such as microsatellites (Hum FXIIIA01 and HumFXIIIA02) and single nucleotide polymorphisms (SNP) are suggested. In the present study we tried to describe evaluation of founder effect in patients with congenital FXIII deficiency via haplotype analysis using suitable genetic markers.  

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

2022 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hoda Motlagh ◽  
Akbar Dorgalaleh ◽  
Shadi Tabibian ◽  
Majid Naderi ◽  
Farhad Zaker
Keyword(s):  
Prenatal Diagnosis ◽  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
Noninvasive Prenatal Diagnosis ◽  
Congenital Factor
Sign in / Sign up

Export Citation Format

Share Document