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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
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

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
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
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

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

Acquired Factor XIII Deficiency in Patients with Multiple Trauma.
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
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
Factor XIII deficiency in south of Tunisia.
Maaloul I, Medhaffer M, Louhichi N, Krichen I, Alibi S, Kmiha S, Aloulou H, Fakhfakh F, Elloumi M, Kallel C, Hachicha M
Blood Coagul Fibrinolysis 2017 Sep;28(6):485-489. doi: 10.1097/MBC.0000000000000649. PMID: 28704210
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
Intracranial hemorrhage in congenital bleeding disorders.
Tabibian S, Motlagh H, Naderi M, Dorgalaleh A
Blood Coagul Fibrinolysis 2018 Jan;29(1):1-11. doi: 10.1097/MBC.0000000000000660. PMID: 28901996
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

Recent systematic reviews

The Impact of Prenatal Vitamin D on Enamel Defects and Tooth Erosion: A Systematic Review.
Tapalaga G, Bumbu BA, Reddy SR, Vutukuru SD, Nalla A, Bratosin F, Fericean RM, Dumitru C, Crisan DC, Nicolae N, Luca MM
Nutrients 2023 Sep 5;15(18) doi: 10.3390/nu15183863. PMID: 37764647Free PMC Article
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
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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