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Factor XIII deficiency

MedGen UID:
1385982
Concept ID:
C4316906
Disease or Syndrome
Synonyms: Factor XIII Deficiency; factor XIII deficiency; Factor XIII deficiency disease; Fibrin stabilizing factor deficiency; FXIIID
SNOMED CT: Factor XIII deficiency (18604004); Factor XIII deficiency disease (18604004); Fibrin stabilizing factor deficiency (18604004)
 
Monarch Initiative: MONDO:0002241

Definition

A coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. [from NCI]

Professional guidelines

PubMed

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
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
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

Recent clinical studies

Etiology

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
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
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
Hsieh L, Nugent D
Haemophilia 2008 Nov;14(6):1190-200. doi: 10.1111/j.1365-2516.2008.01857.x. PMID: 19141159
Reitsma PH
Haemostasis 2000;30 Suppl 2:1-10. doi: 10.1159/000054157. PMID: 11251335

Diagnosis

de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
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
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
Hsieh L, Nugent D
Haemophilia 2008 Nov;14(6):1190-200. doi: 10.1111/j.1365-2516.2008.01857.x. PMID: 19141159
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

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

Prognosis

Hetz M, Juratli T, Tiebel O, Giesecke MT, Tsitsilonis S, Held HC, Beyer F, Kleber C
Injury 2023 May;54(5):1257-1264. Epub 2022 Dec 22 doi: 10.1016/j.injury.2022.12.021. PMID: 36577625
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
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
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
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

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
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
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
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
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

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
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
Sharief LA, Kadir RA
Haemophilia 2013 Nov;19(6):e349-57. Epub 2013 Aug 28 doi: 10.1111/hae.12259. PMID: 23992439
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
Burrows RF, Ray JG, Burrows EA
Obstet Gynecol Surv 2000 Feb;55(2):103-8. doi: 10.1097/00006254-200002000-00024. PMID: 10674253

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