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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

First trimester prenatal diagnosis of severe FXIII deficiency.
Shanbhag S, Ghosh K, Shetty S
Haemophilia 2016 Sep;22(5):e443-4. Epub 2016 Jun 24 doi: 10.1111/hae.12982. PMID: 27340806
Factor XIII deficiency and head trauma: management and therapy.
Ribizzi G, Farinini D, Gentile R, Rizzi D, Serrati C
Neurol Sci 2015 Oct;36(10):1933-4. Epub 2015 Jun 27 doi: 10.1007/s10072-015-2284-0. PMID: 26116182
Therapeutic concentrates for the treatment of congenital deficiencies of factors VII, XI, and XIII.
Stirling D, Ludlam CA
Semin Thromb Hemost 1993;19(1):48-53. doi: 10.1055/s-2007-994005. PMID: 8456323

Recent clinical studies

Etiology

Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort.
Bouttefroy S, Meunier S, Milien V, Boucekine M, Chamouni P, Desprez D, Harroche A, Hochart A, Thiercelin-Legrand MF, Wibaut B, Chambost H, Rugeri L; CoDeC study group
Br J Haematol 2020 Jan;188(2):317-320. Epub 2019 Aug 14 doi: 10.1111/bjh.16133. PMID: 31414482
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
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663

Diagnosis

Rare coagulation disorders: fibrinogen, factor VII and factor XIII.
de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
Diagnosis and classification of factor XIII deficiencies.
Kohler HP, Ichinose A, Seitz R, Ariens RA, Muszbek L; Factor XIII And Fibrinogen SSC Subcommittee Of The ISTH
J Thromb Haemost 2011 Jul;9(7):1404-6. doi: 10.1111/j.1538-7836.2011.04315.x. PMID: 22946956
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
Factor XIII deficiency.
Anwar R, Miloszewski KJ
Br J Haematol 1999 Dec;107(3):468-84. doi: 10.1046/j.1365-2141.1999.01648.x. PMID: 10583246

Therapy

Rare coagulation disorders: fibrinogen, factor VII and factor XIII.
de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
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
Extracellular transglutaminase: factor XIII.
Ichinose A
Prog Exp Tumor Res 2005;38:192-208. doi: 10.1159/000084241. PMID: 15746537
Coagulation problems.
Czapek EE
Int Anesthesiol Clin 1973 Summer;11(2):175-201. doi: 10.1097/00004311-197301120-00010. PMID: 4576124

Prognosis

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
Perioperative course of FXIII in children undergoing major surgery.
Haas T, Korte W, Spielmann N, Mauch J, Madjdpour C, Schmugge M, Weiss M
Paediatr Anaesth 2012 Jul;22(7):641-6. Epub 2011 Sep 20 doi: 10.1111/j.1460-9592.2011.03709.x. PMID: 21933302
Diagnosis and classification of factor XIII deficiencies.
Kohler HP, Ichinose A, Seitz R, Ariens RA, Muszbek L; Factor XIII And Fibrinogen SSC Subcommittee Of The ISTH
J Thromb Haemost 2011 Jul;9(7):1404-6. doi: 10.1111/j.1538-7836.2011.04315.x. PMID: 22946956
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

Clinical prediction guides

Low factor XIII levels and altered fibrinolysis in patients with multiple myeloma.
Ghansah H, Orbán-Kálmándi R, Debreceni IB, Katona É, Rejtő L, Váróczy L, Lóczi L, de Laat B, Huskens D, Kappelmayer J, Bagoly Z
Thromb Res 2024 Feb;234:12-20. Epub 2023 Dec 14 doi: 10.1016/j.thromres.2023.12.004. PMID: 38134612
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
Blood coagulation factor XIII and factor XIII deficiency.
Dorgalaleh A, Rashidpanah J
Blood Rev 2016 Nov;30(6):461-475. Epub 2016 Jun 16 doi: 10.1016/j.blre.2016.06.002. PMID: 27344554
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
Diagnosis and classification of factor XIII deficiencies.
Kohler HP, Ichinose A, Seitz R, Ariens RA, Muszbek L; Factor XIII And Fibrinogen SSC Subcommittee Of The ISTH
J Thromb Haemost 2011 Jul;9(7):1404-6. doi: 10.1111/j.1538-7836.2011.04315.x. PMID: 22946956

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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