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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

Diagnosis and Management of Congenital and Acquired FXIII Deficiencies.
Muszbek L, Katona É
Semin Thromb Hemost 2016 Jun;42(4):429-39. Epub 2016 Apr 12 doi: 10.1055/s-0036-1572326. PMID: 27071048
Cryoprecipitate: an outmoded treatment?
Yang L, Stanworth S, Baglin T
Transfus Med 2012 Oct;22(5):315-20. doi: 10.1111/j.1365-3148.2012.01181.x. PMID: 22994448
Coagulation management in patients undergoing mechanical circulatory support.
Görlinger K, Bergmann L, Dirkmann D
Best Pract Res Clin Anaesthesiol 2012 Jun;26(2):179-98. doi: 10.1016/j.bpa.2012.04.003. PMID: 22910089

Recent clinical studies

Etiology

Factor XIII and Endothelial Dysfunction in Patients with Systemic Sclerosis.
Alesci S, Wahle M, Himsel A, Miesbach W
Hamostaseologie 2023 Dec;43(6):411-417. Epub 2023 May 1 doi: 10.1055/a-2018-7014. PMID: 37127039
Nonimmune-acquired factor XIII deficiency: a cause of high volume and delayed postoperative hemorrhage.
Chuliber FA, Schutz NP, Viñuales ES, Penchasky DL, Otero V, Villagra Iturre MJ, López MS, Mezzarobba D, Barrera LH, Privitera V, Arbelbide JA, Martinuzzo ME
Blood Coagul Fibrinolysis 2020 Dec;31(8):511-516. doi: 10.1097/MBC.0000000000000953. PMID: 32852328
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
Clinical Use of Factor XIII Concentrates.
Lassila R
Semin Thromb Hemost 2016 Jun;42(4):440-4. Epub 2016 Apr 12 doi: 10.1055/s-0036-1572324. PMID: 27071044
Pregnancy and rare bleeding disorders.
Kadir R, Chi C, Bolton-Maggs P
Haemophilia 2009 Sep;15(5):990-1005. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01984.x. PMID: 19298378

Diagnosis

The History of Factor XIII Deficiency.
Dorgalaleh A
Semin Thromb Hemost 2024 Feb;50(1):34-42. Epub 2023 Jan 27 doi: 10.1055/s-0043-1761217. PMID: 36706781
Factor XIII and Endothelial Dysfunction in Patients with Systemic Sclerosis.
Alesci S, Wahle M, Himsel A, Miesbach W
Hamostaseologie 2023 Dec;43(6):411-417. Epub 2023 May 1 doi: 10.1055/a-2018-7014. PMID: 37127039
Laboratory Diagnosis of Factor XIII Deficiency, Routine Coagulation Tests with Quantitative and Qualitative Methods.
Dorgalaleh A, Kazemi A, Zaker F, Shamsizadeh M, Rashidpanah J, Mollaei M
Clin Lab 2016;62(4):491-8. doi: 10.7754/clin.lab.2015.150619. PMID: 27215067
Diagnosis and Management of Congenital and Acquired FXIII Deficiencies.
Muszbek L, Katona É
Semin Thromb Hemost 2016 Jun;42(4):429-39. Epub 2016 Apr 12 doi: 10.1055/s-0036-1572326. PMID: 27071048
Clinical Use of Factor XIII Concentrates.
Lassila R
Semin Thromb Hemost 2016 Jun;42(4):440-4. Epub 2016 Apr 12 doi: 10.1055/s-0036-1572324. PMID: 27071044

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
Clinical Use of Factor XIII Concentrates.
Lassila R
Semin Thromb Hemost 2016 Jun;42(4):440-4. Epub 2016 Apr 12 doi: 10.1055/s-0036-1572324. PMID: 27071044
Coagulation Factor XIIIA (F13A1): Novel Perspectives in Treatment and Pharmacogenetics.
Gemmati D, Vigliano M, Burini F, Mari R, El Mohsein HH, Parmeggiani F, Serino ML
Curr Pharm Des 2016;22(11):1449-59. doi: 10.2174/1381612822666151210122954. PMID: 26654441
Novel aspects of factor XIII deficiency.
Muszbek L, Bagoly Z, Cairo A, Peyvandi F
Curr Opin Hematol 2011 Sep;18(5):366-72. doi: 10.1097/MOH.0b013e3283497e3e. PMID: 21738029
Pregnancy and rare bleeding disorders.
Kadir R, Chi C, Bolton-Maggs P
Haemophilia 2009 Sep;15(5):990-1005. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01984.x. PMID: 19298378

Prognosis

Trials and Tribulations of Viscoelastic-Based Determination of Fibrinogen Concentration.
Ranucci M, Di Dedda U, Baryshnikova E
Anesth Analg 2020 Mar;130(3):644-653. doi: 10.1213/ANE.0000000000004522. PMID: 31725023
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
New developments in the area of factor XIII.
Schroeder V, Kohler HP
J Thromb Haemost 2013 Feb;11(2):234-44. doi: 10.1111/jth.12074. PMID: 23279671
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 V34L polymorphism modulates the risk of chronic venous leg ulcer progression and extension.
Gemmati D, Tognazzo S, Serino ML, Fogato L, Carandina S, De Palma M, Izzo M, De Mattei M, Ongaro A, Scapoli GL, Caruso A, Liboni A, Zamboni P
Wound Repair Regen 2004 Sep-Oct;12(5):512-7. doi: 10.1111/j.1067-1927.2004.012503.x. PMID: 15453833

Clinical prediction guides

Factor XIII and Endothelial Dysfunction in Patients with Systemic Sclerosis.
Alesci S, Wahle M, Himsel A, Miesbach W
Hamostaseologie 2023 Dec;43(6):411-417. Epub 2023 May 1 doi: 10.1055/a-2018-7014. PMID: 37127039
Trials and Tribulations of Viscoelastic-Based Determination of Fibrinogen Concentration.
Ranucci M, Di Dedda U, Baryshnikova E
Anesth Analg 2020 Mar;130(3):644-653. doi: 10.1213/ANE.0000000000004522. PMID: 31725023
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
Coagulation Factor XIIIA (F13A1): Novel Perspectives in Treatment and Pharmacogenetics.
Gemmati D, Vigliano M, Burini F, Mari R, El Mohsein HH, Parmeggiani F, Serino ML
Curr Pharm Des 2016;22(11):1449-59. doi: 10.2174/1381612822666151210122954. PMID: 26654441
New developments in the area of factor XIII.
Schroeder V, Kohler HP
J Thromb Haemost 2013 Feb;11(2):234-44. doi: 10.1111/jth.12074. PMID: 23279671

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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