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Hereditary factor XIII deficiency disease

MedGen UID:
4639
•Concept ID:
C0015530
•
Disease or Syndrome
Synonyms: Congenital Factor XIII deficiency; Fibrin stabilizing factor deficiency
SNOMED CT: Hereditary factor XIII deficiency disease (50189006); Laki-Lorand factor deficiency disease (50189006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018029
Orphanet: ORPHA331

Definition

Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary factor XIII deficiency disease

Professional guidelines

PubMed

Factor XIII Deficiency: A Review of Clinical Presentation and Management.
Pelcovits A, Schiffman F, Niroula R
Hematol Oncol Clin North Am 2021 Dec;35(6):1171-1180. Epub 2021 Oct 2 doi: 10.1016/j.hoc.2021.07.009. PMID: 34607717
Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.
Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M
Hematology 2017 May;22(4):224-230. Epub 2016 Nov 28 doi: 10.1080/10245332.2016.1263007. PMID: 27894217
The burden and management of FXIII deficiency.
de Jager T, Pericleous L, Kokot-Kierepa M, Naderi M, Karimi M
Haemophilia 2014 Nov;20(6):733-40. Epub 2014 Jul 17 doi: 10.1111/hae.12474. PMID: 25039531

Recent clinical studies

Etiology

Factor XIII Deficiency: A Review of Clinical Presentation and Management.
Pelcovits A, Schiffman F, Niroula R
Hematol Oncol Clin North Am 2021 Dec;35(6):1171-1180. Epub 2021 Oct 2 doi: 10.1016/j.hoc.2021.07.009. PMID: 34607717
The use of prophylaxis in the treatment of rare bleeding disorders.
Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204
Valproic Acid-Induced Coagulopathy.
Kumar R, Vidaurre J, Gedela S
Pediatr Neurol 2019 Sep;98:25-30. Epub 2019 May 2 doi: 10.1016/j.pediatrneurol.2019.04.019. PMID: 31201069
Auto- and alloantibodies against factor XIII: laboratory diagnosis and clinical consequences.
Muszbek L, Pénzes K, Katona É
J Thromb Haemost 2018 May;16(5):822-832. Epub 2018 Mar 23 doi: 10.1111/jth.13982. PMID: 29460500
Factor XIII deficiency.
Hsieh L, Nugent D
Haemophilia 2008 Nov;14(6):1190-200. doi: 10.1111/j.1365-2516.2008.01857.x. PMID: 19141159

Diagnosis

Factor XIII and surgical bleeding.
Guilabert P, Asmis L, Cortina V, Barret JP, Colomina MJ
Minerva Anestesiol 2022 Mar;88(3):156-165. Epub 2022 Jan 24 doi: 10.23736/S0375-9393.22.15772-X. PMID: 35072429
Acquired factor XIII deficiency: A review.
Yan MTS, Rydz N, Goodyear D, Sholzberg M
Transfus Apher Sci 2018 Dec;57(6):724-730. Epub 2018 Oct 30 doi: 10.1016/j.transci.2018.10.013. PMID: 30446212
Factor XIII deficiency diagnosis: Challenges and tools.
Karimi M, Peyvandi F, Naderi M, Shapiro A
Int J Lab Hematol 2018 Feb;40(1):3-11. Epub 2017 Oct 13 doi: 10.1111/ijlh.12756. PMID: 29027765
Diagnosis of factor XIII deficiency.
Dorgalaleh A, Tabibian S, Hosseini MS, Farshi Y, Roshanzamir F, Naderi M, Kazemi A, Zaker F, Aghideh AN, Shamsizadeh M
Hematology 2016 Aug;21(7):430-9. Epub 2016 Mar 30 doi: 10.1080/10245332.2015.1101975. PMID: 27077776
Factor XIII Deficiency.
Karimi M, Bereczky Z, Cohan N, Muszbek L
Semin Thromb Hemost 2009 Jun;35(4):426-38. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225765. PMID: 19598071

Therapy

Factor XIII and surgical bleeding.
Guilabert P, Asmis L, Cortina V, Barret JP, Colomina MJ
Minerva Anestesiol 2022 Mar;88(3):156-165. Epub 2022 Jan 24 doi: 10.23736/S0375-9393.22.15772-X. PMID: 35072429
Valproic Acid-Induced Coagulopathy.
Kumar R, Vidaurre J, Gedela S
Pediatr Neurol 2019 Sep;98:25-30. Epub 2019 May 2 doi: 10.1016/j.pediatrneurol.2019.04.019. PMID: 31201069
Cryoprecipitate therapy.
Nascimento B, Goodnough LT, Levy JH
Br J Anaesth 2014 Dec;113(6):922-34. Epub 2014 Jun 27 doi: 10.1093/bja/aeu158. PMID: 24972790Free PMC Article
Factor XIII Deficiency.
Karimi M, Bereczky Z, Cohan N, Muszbek L
Semin Thromb Hemost 2009 Jun;35(4):426-38. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225765. PMID: 19598071
Factor XIII deficiency.
Hsieh L, Nugent D
Haemophilia 2008 Nov;14(6):1190-200. doi: 10.1111/j.1365-2516.2008.01857.x. PMID: 19141159

Prognosis

Inherited Bleeding Disorders in the Obstetric Patient.
Bannow BS, Konkle BA
Transfus Med Rev 2018 Oct;32(4):237-243. Epub 2018 Jul 12 doi: 10.1016/j.tmrv.2018.06.003. PMID: 30097224
Auto- and alloantibodies against factor XIII: laboratory diagnosis and clinical consequences.
Muszbek L, Pénzes K, Katona É
J Thromb Haemost 2018 May;16(5):822-832. Epub 2018 Mar 23 doi: 10.1111/jth.13982. PMID: 29460500
Autoimmune acquired factor XIII deficiency due to anti-factor XIII/13 antibodies: A summary of 93 patients.
Ichinose A; Japanese Collaborative Research Group on AH13
Blood Rev 2017 Jan;31(1):37-45. Epub 2016 Aug 11 doi: 10.1016/j.blre.2016.08.002. PMID: 27542511
Factor XIII deficiency.
Hsieh L, Nugent D
Haemophilia 2008 Nov;14(6):1190-200. doi: 10.1111/j.1365-2516.2008.01857.x. PMID: 19141159
Factor XIII: inherited and acquired deficiency.
Board PG, Losowsky MS, Miloszewski KJ
Blood Rev 1993 Dec;7(4):229-42. doi: 10.1016/0268-960x(93)90010-2. PMID: 8130686

Clinical prediction guides

The impact of acquired coagulation factor XIII deficiency in traumatic bleeding and wound healing.
Kleber C, Sablotzki A, Casu S, Olivieri M, Thoms KM, Horter J, Schmitt FCF, Birschmann I, Fries D, Maegele M, Schöchl H, Wilhelmi M
Crit Care 2022 Mar 24;26(1):69. doi: 10.1186/s13054-022-03940-2. PMID: 35331308Free PMC Article
The use of prophylaxis in the treatment of rare bleeding disorders.
Shapiro A
Thromb Res 2020 Dec;196:590-602. Epub 2019 Jul 19 doi: 10.1016/j.thromres.2019.07.014. PMID: 31420204
Auto- and alloantibodies against factor XIII: laboratory diagnosis and clinical consequences.
Muszbek L, Pénzes K, Katona É
J Thromb Haemost 2018 May;16(5):822-832. Epub 2018 Mar 23 doi: 10.1111/jth.13982. PMID: 29460500
Diagnosis of factor XIII deficiency.
Dorgalaleh A, Tabibian S, Hosseini MS, Farshi Y, Roshanzamir F, Naderi M, Kazemi A, Zaker F, Aghideh AN, Shamsizadeh M
Hematology 2016 Aug;21(7):430-9. Epub 2016 Mar 30 doi: 10.1080/10245332.2015.1101975. PMID: 27077776
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency.
Levy JH, Greenberg C
Transfusion 2013 May;53(5):1120-31. Epub 2012 Aug 28 doi: 10.1111/j.1537-2995.2012.03865.x. PMID: 22928875

Recent systematic reviews

Acquired Factor XIII Inhibitor in Hospitalized and Perioperative Patients: A Systematic Review of Case Reports and Case Series.
Tone KJ, James TE, Fergusson DA, Tinmouth A, Tay J, Avey MT, Kilty S, Lalu MM
Transfus Med Rev 2016 Jul;30(3):123-31. Epub 2016 Apr 22 doi: 10.1016/j.tmrv.2016.04.001. PMID: 27167905
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492Free PMC Article
Congenital factor XIII deficiency in women: a systematic review of literature.
Sharief LA, Kadir RA
Haemophilia 2013 Nov;19(6):e349-57. Epub 2013 Aug 28 doi: 10.1111/hae.12259. PMID: 23992439
Acquired FXIII inhibitors: a systematic review.
Franchini M, Frattini F, Crestani S, Bonfanti C
J Thromb Thrombolysis 2013 Jul;36(1):109-14. doi: 10.1007/s11239-012-0818-3. PMID: 23065324
Fibrinolytic defects and recurrent miscarriage: a systematic review and meta-analysis.
Sotiriadis A, Makrigiannakis A, Stefos T, Paraskevaidis E, Kalantaridou SN
Obstet Gynecol 2007 May;109(5):1146-55. doi: 10.1097/01.AOG.0000260873.94196.d6. PMID: 17470597

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