medigraphic.com
Boletín Clínico de la Asociación Médica del Hospital Infantil del Estado de Sonora

2023, Number 2

<< Back Next >>

Bol Clin Hosp Infant Edo Son 2023; 40 (2)

Congenital factor XIII deficiency. Case description and literature review

Quero HA, Quero EA, Reyes GU, Reyes HKL, Álvarez SRM, Vargas VMP, Orozco AI, Virgen OC, Gutierrez GVM, Escalera AP, Ayuzo VC, Carreón GJM, Vargas MME

Language: Spanish
References: 20
Page: 59-64
PDF size: 245.92 Kb.


ABSTRACT

Factor XIII participates in the final stage of coagulation. It is made up of two components: two catalytic A subunits, and two carrier B subunits, it is activated in the presence of the fibrin, thrombin and Ca2 clot, giving rise to the cross-linking of fibrin fibers. Patients with congenital FXIII deficiency present bleeding hours or days after suffering the traumatic event. The objecti- ve is to present the clinical course of a neonate with massive hemorrhage from the umbilical cord due decreased factor XIII activity. This clinical case is about full-term male, son of parents without consanguinity, who at 8 days of life was admitted with hypovolemia and severe anemia due to profuse bleeding from the umbilical cord. His basic coagulation profile was normal. Factor XIII activity was found to be decreased, so fresh frozen plasma was transfused to control the bleeding. It is a rare disease. It is characterized by umbilical cord bleeding, depending on the level of factor XIII activity, will be the intensity of bleeding. Molecular biology has identified about 150 mutations, between chromosomes 6 p25-25 and 1 q32-32. Substitution treatments is with FXIII concentrates. It is presence must be considered in the presence of a neonate with umbilical cord bleeding and normal coagulation tests. Determine Factor XIII activity, antigenic levels and molecular biology.


REFERENCES

  1. Alshehri FS, Whyte CS, Mutch NJ. Factor XIII-A: Anindispensable “factor” in haemostasis and woundhealing. [Internet]. Int J Mol Sci. 2021; 22: 3055.https://doi.org/10.3390/ijms22063055

  2. Anne T, Arijit B, Vytautas I, Johannes O. Structuraland functional influences of coagulation factor XIIIsubunit B heterozygous missense mutants. MolGenet Genomic Med.2015; 3(4): 258-71.

  3. Ma S, Chen C, Liang Q, Wu X, Wuan X, Wu W, etal. Phenotype and genotype of FXIII deficiency intwo unrelated portends: identification of a novelF13A1 large deletion mediated by complex rearrangement.[Internet]. Orphanet J Rare Dis. 2019; 14:182.https://doi.org/10.1186/s13023-019-1144-z

  4. Pai NG, Metha LK, Padhye NM, Sayed ZM. Dentalmanagement of factor XIII deficiency patients:a case series. Int J Clin Pediatr Dent. 2020; 13(3):299-302.

  5. Cohen EL, Millikan SE, Morocco PC, Jong JL. Hemorrhagicshock after neonatal circumcision: severecongenital factor XIII deficiency. Case Rep Pediatr.2021; 3: 2021, 5550199. doi:10.1155/2021

  6. Verena S, Dominik D, Meilic E, Schubigered G, KolheraHP. Congenital factor XIII in Switzeraland.From the worldwide first case 1960 to its molecularcharacterisation in 2005. Swiss Med Wkly. 2007;137: 272-8.

  7. Karimi M, Peyvandi F, Naderi M, Shapiro A. FactorXIII deficiency diagnosis: Challenges and tools. IntJ Lab Hem. 2018; 40: 3-11.

  8. Acharya SS, Coughlin A, DiMichele DM. The NorthAmerican rare bleeding disorder study group. Rarebleeding disorder registry: deficiencies of factor II,V, VII, X, XIII, fibrinogen and dysfibrinogenemias. JThromb Haemost. 2004; 2: 248-56.

  9. Peyvandi F, Spreafico M. National and internationalregistries of rare bleeding disorders. Blood Transfus.2008; 6(suppl 2): 45-8. doi: 10.2450/2008.0037-08

  10. Naz A, Younus JM, Amanat S, Din IU, Najmuddin A,Patel H et al. Autosomal recessive inherited bleedingdisorders in Pakistan: a cross-sectional studyfrom selected regions. Orphanet J rare Dis. 2017;12: 66.

  11. Gerez Martínez BP, González Llano O, RodríguezRomo LN, Sandoval González C, Marfil Rivera LJ.Deficiencia del factor XIII. Reporte de un caso clínico.Medicina Universitaria. 2007; 9(36): 144-5.

  12. Informe de la Federación Mundial de la Hemofiliasobre el Sondeo Mundial Anual 2017, Octubre de2018.

  13. Durda MA, Wolberg AS, Kerlin BA. State of the artin factor XIII. Laboratory assessment. TransfusApher Sci. 2018; 57(6): 700-4. doi:10.1016/j.transci.2018.07.006

  14. Naderi Majid, Alizadeh Shaban, Kazemi Ahmad,Tabibian Shadi, Zaker Farhad, Bamedi Taregh et al.Central nervous system bleeding in pediatric patientswith factor XIII deficiency: A study on 23 newcases. Hematology 2015; 20: 112-8. doi:10.1179/1607845414Y.0000000172

  15. Dorgalaleh A, Tabibian S, Hosseini MS, Farshi Y,Roshanzamir F, Naderi M, et al. Diagnosis of factorXIII deficiency. Hematology. 2016; 21(7): 430-9. doi:10.1080/10245332.2015.1101975

  16. Cini M, Legnani C, Frascaro M, Pancani C, CapelliC, Rodorigo G, et al. Measurement of factor XIII(FXIII) activity by an automatic ammonia releaseassay using iodoacetamide blanck-procedure: nomore overestimation in the low activity range andbetter detection of severe FXIII deficiencies. ClinChem Lab Med. 2016; 54(5): 805-9. doi: 10.1515/cclm-2015-0547

  17. Dorgalaleh A, Assadollahi V, Tabibian S, Shamsizadeh.Molecular basis of congenital factor XIII deficiencyin Iran. Clin Appl Thromb Hemost. 2018;24(2): 210-6.

  18. Ivaskevicius V, Biswas A, Garly ML, Oldenburg J.Comparison of F13A1 gene mutations in 73 patientstreated with recombinant FXIII-A. Haemophilia.2017; 23(3): e194-e203 doi:10.1111/hae.13233

  19. Orosz ZZ, Katona E, Facskó A, Berta A, Muszbek.A highly sensitive chemiluminescence immunoassayfor the measurement of coagulation factorXIII subunits and their complex in tears. J ImmunolMethods. 2010; (1-2): 87-92. doi: 10.1016/j.jim.2010.01.001

  20. Dasari P, Mangolngnbi Chanu S, Gadipudi LP. BMJCase Rep. 2020; 13: e236365. doi:10.1136/bcd-2020-236365




2020     |     www.medigraphic.com