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Factor XIII, b subunit, deficiency of

MedGen UID:
442490
Concept ID:
C2750481
Finding
Synonym: Factor XIII subunit B deficiency
 
Gene (location): F13B (1q31.3)
 
HPO: HP:0040234
Monarch Initiative: MONDO:0013190
OMIM®: 613235

Definition

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2. [from OMIM]

Additional description

From MedlinePlus Genetics
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified an inherited form and a less severe form that is acquired during a person's lifetime.

Acquired factor XIII deficiency becomes apparent later in life. People with the acquired form are less likely to have severe or life-threatening episodes of abnormal bleeding than those with the inherited form.

Signs and symptoms of inherited factor XIII deficiency begin soon after birth, usually with abnormal bleeding from the umbilical cord stump. If the condition is not treated, affected individuals may have episodes of excessive and prolonged bleeding that can be life-threatening. Abnormal bleeding can occur after surgery or minor trauma. The condition can also cause spontaneous bleeding into the joints or muscles, leading to pain and disability. Women with inherited factor XIII deficiency tend to have heavy or prolonged menstrual bleeding (menorrhagia) and may experience recurrent pregnancy losses (miscarriages). Other signs and symptoms of inherited factor XIII deficiency include nosebleeds, bleeding of the gums, easy bruising, problems with wound healing, bleeding after surgery, and abnormal scar formation. Inherited factor XIII deficiency also increases the risk of spontaneous bleeding inside the skull (intracranial hemorrhage), which is the leading cause of death in people with this condition.  https://medlineplus.gov/genetics/condition/factor-xiii-deficiency

Clinical features

From HPO
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Factor XIII, b subunit, deficiency of
MedGen UID:
442490
Concept ID:
C2750481
Finding
Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.
Prolonged bleeding after surgery
MedGen UID:
867284
Concept ID:
C4021646
Pathologic Function
Bleeding that persists longer than the normal time following a surgical procedure.
Abnormal umbilical stump bleeding
MedGen UID:
868740
Concept ID:
C4023145
Anatomical Abnormality
Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
Reduced factor XIII activity
MedGen UID:
870254
Concept ID:
C4024692
Finding
Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor XIII, b subunit, deficiency of

Conditions with this feature

Factor XIII, b subunit, deficiency of
MedGen UID:
442490
Concept ID:
C2750481
Finding
Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

Professional guidelines

PubMed

Peyvandi F, Garagiola I, Biguzzi E
J Thromb Haemost 2016 Nov;14(11):2095-2106. Epub 2016 Oct 19 doi: 10.1111/jth.13491. PMID: 27590165
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
Biswas A, Ivaskevicius V, Thomas A, Oldenburg J
Hamostaseologie 2014;34(2):160-6. Epub 2014 Feb 7 doi: 10.5482/HAMO-13-08-0046. PMID: 24503678

Recent clinical studies

Etiology

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
Bagoly Z, Koncz Z, Hársfalvi J, Muszbek L
Thromb Res 2012 Mar;129(3):382-7. Epub 2011 Dec 24 doi: 10.1016/j.thromres.2011.11.040. PMID: 22197181
Bereczky Z, Muszbek L
Semin Thromb Hemost 2011 Apr;37(3):305-14. Epub 2011 Mar 31 doi: 10.1055/s-0031-1273094. PMID: 21455864
Ichinose A, Asahina T, Kobayashi T
Curr Drug Targets 2005 Aug;6(5):541-9. doi: 10.2174/1389450054545953. PMID: 16026274
Board PG, Losowsky MS, Miloszewski KJ
Blood Rev 1993 Dec;7(4):229-42. doi: 10.1016/0268-960x(93)90010-2. PMID: 8130686

Diagnosis

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
Biswas A, Ivaskevicius V, Thomas A, Oldenburg J
Hamostaseologie 2014;34(2):160-6. Epub 2014 Feb 7 doi: 10.5482/HAMO-13-08-0046. PMID: 24503678
Ichinose A
Int J Hematol 2012 Apr;95(4):362-70. Epub 2012 Apr 5 doi: 10.1007/s12185-012-1064-3. PMID: 22477542
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
Board PG, Losowsky MS, Miloszewski KJ
Blood Rev 1993 Dec;7(4):229-42. doi: 10.1016/0268-960x(93)90010-2. PMID: 8130686

Therapy

Carcao M, Fukutake K, Inbal A, Kerlin B, Lassila R, Oldenburg J, Garly ML, Nugent D
Semin Thromb Hemost 2017 Feb;43(1):59-68. Epub 2016 Aug 24 doi: 10.1055/s-0036-1585076. PMID: 27556350
Peyvandi F, Garagiola I, Biguzzi E
J Thromb Haemost 2016 Nov;14(11):2095-2106. Epub 2016 Oct 19 doi: 10.1111/jth.13491. PMID: 27590165
Biswas A, Ivaskevicius V, Thomas A, Oldenburg J
Hamostaseologie 2014;34(2):160-6. Epub 2014 Feb 7 doi: 10.5482/HAMO-13-08-0046. PMID: 24503678
Tahlan A, Ahluwalia J
Arch Pathol Lab Med 2014 Feb;138(2):278-81. doi: 10.5858/arpa.2012-0639-RS. PMID: 24476525
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

Prognosis

Kun M, Szuber N, Katona É, Pénzes K, Bonnefoy A, Bécsi B, Erdődi F, Rivard GE, Muszbek L
Haemophilia 2017 Jul;23(4):590-597. Epub 2017 Mar 26 doi: 10.1111/hae.13205. PMID: 28345289
Sugiyama H, Uesugi H, Suzuki S, Tanaka K, Souri M, Ichinose A
Blood Coagul Fibrinolysis 2013 Jan;24(1):85-9. doi: 10.1097/MBC.0b013e328358e8e7. PMID: 23183237
Maeda S, Zhang WG, Souri M, Yee VC, Ichinose A
J Biochem 2012 Nov;152(5):471-8. Epub 2012 Aug 25 doi: 10.1093/jb/mvs088. PMID: 22923741Free PMC Article
Schroeder V, Durrer D, Meili E, Schubiger G, Kohler HP
Swiss Med Wkly 2007 May 19;137(19-20):272-8. doi: 10.4414/smw.2007.11756. PMID: 17594539
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

Singh S, Akhter MS, Dodt J, Volkers P, Reuter A, Reinhart C, Krettler C, Oldenburg J, Biswas A
Int J Mol Sci 2019 May 31;20(11) doi: 10.3390/ijms20112682. PMID: 31159152Free PMC Article
Souri M, Mokuda S, Inanami H, Osaki T, Takasugi K, Ichinose A
Thromb Res 2016 Apr;140:100-105. Epub 2016 Feb 26 doi: 10.1016/j.thromres.2016.02.026. PMID: 26938156
Souri M, Osaki T, Ichinose A
J Thromb Haemost 2015 May;13(5):802-14. Epub 2015 Apr 2 doi: 10.1111/jth.12877. PMID: 25703841
Ichinose A
Semin Thromb Hemost 2011 Jun;37(4):382-8. Epub 2011 Jul 30 doi: 10.1055/s-0031-1276587. PMID: 21805444
Schroeder V, Durrer D, Meili E, Schubiger G, Kohler HP
Swiss Med Wkly 2007 May 19;137(19-20):272-8. doi: 10.4414/smw.2007.11756. PMID: 17594539

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