Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency.[4] It predominantly occurs in Ashkenazi Jews. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the United States, it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.[1][5]
In terms of the signs/symptoms of haemophilia C, unlike individuals with Haemophilia A and B, people affected by it are not ones to bleed spontaneously. In these cases, haemorrhages tend to happen after a major surgery or injury.[6] However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following:[2]
Haemophilia C is caused by a deficiency of coagulationfactor XI and is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints. Furthermore, it has autosomal recessive inheritance, since the gene for factor XI is located on chromosome 4 (near the prekallikrein gene); and it is not completely recessive, individuals who are heterozygous also show increased bleeding.[1][7]
Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. Haemophilia C is occasionally observed in individuals with systemic lupus erythematosus, because of inhibitors to the FXI protein.[1][8]
Diagnosisedit
The diagnosis of haemophilia C (factor XI deficiency) is centered on prolonged activated partial thromboplastin time (aPTT). One will find that the factor XI has decreased in the individual's body. In terms of differential diagnosis, one must consider: haemophilia A, haemophilia B, lupus anticoagulant and heparin contamination.[4][9] The prolongation of the activated partial thromboplastin time should completely correct with a 1:1 mixing study with normal plasma if haemophilia C is present; in contrast, if a lupus anticoagulant is present as the cause of a prolonged aPTT, the aPTT will not correct with a 1:1 mixing study.[citation needed]
Treatmentedit
In terms of haemophilia C medication tranexamic acid is often used for both treatment after an incident of bleeding and as a preventive measure to avoid excessive bleeding during oral surgery.[3]
Treatment is usually not necessary, except in relation to operations, leading to many of those having the condition not being aware of it. In these cases, fresh frozen plasma or recombinant factor XI may be used, but only if necessary.[4][10]
Those affected may often develop nosebleeds, while females can experience unusual menstrual bleeding which can be avoided by taking birth control such as: IUDs and oral or injected contraceptives to increase coagulation ability by adjusting hormones to levels similar to pregnancy.[medical citation needed]
^ abcdefg"Hemophilia C: Background, Etiology, Epidemiology". December 9, 2021 – via eMedicine. {{cite journal}}: Cite journal requires |journal= (help)
^ abSeligsohn, U. (2009-07-01). "Factor XI deficiency in humans". Journal of Thrombosis and Haemostasis. 7: 84–87. doi:10.1111/j.1538-7836.2009.03395.x. ISSN 1538-7836. PMID 19630775. S2CID 37670882.
^ abAnderson, J. a. M.; Brewer, A.; Creagh, D.; Hook, S.; Mainwaring, J.; McKernan, A.; Yee, T. T.; Yeung, C. A. (23 November 2013). "Guidance on the dental management of patients with haemophilia and congenital bleeding disorders". British Dental Journal. 215 (10): 497–504. doi:10.1038/sj.bdj.2013.1097. ISSN 0007-0610. PMID 24264665.
^Kitchens, Craig S.; Konkle, Barbara A.; Kessler, Craig M. (2013-02-20). Consultative Hemostasis and Thrombosis. Elsevier Health Sciences. p. 70. ISBN978-1455733293.
^RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital factor XI deficiency Hemophilia C". www.orpha.net. Retrieved 2016-07-12.
^Orkin, Stuart H.; Nathan, David G.; Ginsburg, David; Look, A. Thomas; Fisher, David E.; IV, Samuel Lux (2014-11-14). Nathan and Oski's Hematology and Oncology of Infancy and Childhood. Elsevier Health Sciences. p. 136. ISBN9780323291774.
Further readingedit
Zucker, M.; Zivelin, A.; Landau, M.; Salomon, O.; Kenet, G.; Bauduer, F.; Samama, M.; Conard, J.; Denninger, M.-H.; Hani, A.-S.; Berruyer, M.; Feinstein, D.; Seligsohn, U. (1 October 2007). "Characterization of seven novel mutations causing factor XI deficiency". Haematologica. 92 (10): 1375–1380. doi:10.3324/haematol.11526. ISSN 0390-6078. PMID 18024374.
Orkin, Stuart H.; Nathan, David G. (2008). Nathan and Oski's Hematology of Infancy and Childhood. Elsevier Health Sciences. ISBN978-1416034308. Retrieved 12 July 2016.
Goldman, Lee; Schafer, Andrew I. (2016). Goldman-Cecil Medicine Elsevieron VitalSource. Elsevier Health Sciences. ISBN9780323322850. Retrieved 12 July 2016.
haemophilia, also, known, plasma, thromboplastin, antecedent, deficiency, rosenthal, syndrome, mild, form, haemophilia, affecting, both, sexes, factor, deficiency, predominantly, occurs, ashkenazi, jews, fourth, most, common, coagulation, disorder, after, will. Haemophilia C also known as plasma thromboplastin antecedent PTA deficiency or Rosenthal syndrome is a mild form of haemophilia affecting both sexes due to factor XI deficiency 4 It predominantly occurs in Ashkenazi Jews It is the fourth most common coagulation disorder after von Willebrand s disease and haemophilia A and B In the United States it is thought to affect 1 in 100 000 of the adult population making it 10 as common as haemophilia A 1 5 Haemophilia COther namesPlasma thromboplastin antecedent PTA deficiency Rosenthal syndromeHaemophilia C caused by deficiency in Factor XI 1 SpecialtyHaematologySymptomsOral bleeding 2 CausesDeficiency of coagulation factor XI 1 Diagnostic methodProthrombin time 1 PreventionPhysical activity precautions 1 Treatmenttranexamic acid 3 Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 See also 6 References 7 Further reading 8 External linksSigns and symptoms editIn terms of the signs symptoms of haemophilia C unlike individuals with Haemophilia A and B people affected by it are not ones to bleed spontaneously In these cases haemorrhages tend to happen after a major surgery or injury 6 However people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following 2 Oral bleeding Nosebleeds Blood in the urine Post partum bleeding 20 of cases Tonsils bleeding Cause edit nbsp Chromosome 4Haemophilia C is caused by a deficiency of coagulation factor XI and is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints Furthermore it has autosomal recessive inheritance since the gene for factor XI is located on chromosome 4 near the prekallikrein gene and it is not completely recessive individuals who are heterozygous also show increased bleeding 1 7 Many mutations exist and the bleeding risk is not always influenced by the severity of the deficiency Haemophilia C is occasionally observed in individuals with systemic lupus erythematosus because of inhibitors to the FXI protein 1 8 Diagnosis editThe diagnosis of haemophilia C factor XI deficiency is centered on prolonged activated partial thromboplastin time aPTT One will find that the factor XI has decreased in the individual s body In terms of differential diagnosis one must consider haemophilia A haemophilia B lupus anticoagulant and heparin contamination 4 9 The prolongation of the activated partial thromboplastin time should completely correct with a 1 1 mixing study with normal plasma if haemophilia C is present in contrast if a lupus anticoagulant is present as the cause of a prolonged aPTT the aPTT will not correct with a 1 1 mixing study citation needed Treatment editIn terms of haemophilia C medication tranexamic acid is often used for both treatment after an incident of bleeding and as a preventive measure to avoid excessive bleeding during oral surgery 3 Treatment is usually not necessary except in relation to operations leading to many of those having the condition not being aware of it In these cases fresh frozen plasma or recombinant factor XI may be used but only if necessary 4 10 Those affected may often develop nosebleeds while females can experience unusual menstrual bleeding which can be avoided by taking birth control such as IUDs and oral or injected contraceptives to increase coagulation ability by adjusting hormones to levels similar to pregnancy medical citation needed nbsp Cyklokapron Tranexamic acid nbsp Fresh Frozen PlasmaSee also editBleeding diathesis Bernard Soulier syndrome Von Willebrand disease Vitamin K deficiency Congenital afibrinogenemia CoagulopathyReferences edit a b c d e f g Hemophilia C Background Etiology Epidemiology December 9 2021 via eMedicine a href Template Cite journal html title Template Cite journal cite journal a Cite journal requires journal help a b Seligsohn U 2009 07 01 Factor XI deficiency in humans Journal of Thrombosis and Haemostasis 7 84 87 doi 10 1111 j 1538 7836 2009 03395 x ISSN 1538 7836 PMID 19630775 S2CID 37670882 a b Anderson J a M Brewer A Creagh D Hook S Mainwaring J McKernan A Yee T T Yeung C A 23 November 2013 Guidance on the dental management of patients with haemophilia and congenital bleeding disorders British Dental Journal 215 10 497 504 doi 10 1038 sj bdj 2013 1097 ISSN 0007 0610 PMID 24264665 a b c Factor XI Deficiency Background Pathophysiology Epidemiology 2018 07 02 a href Template Cite journal html title Template Cite journal cite journal a Cite journal requires journal help Factor XI deficiency Disease Overview Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Archived from the original on 2019 12 16 Retrieved 2016 07 09 Gomez K Bolton Maggs P 2008 11 01 Factor XI deficiency Haemophilia 14 6 1183 1189 doi 10 1111 j 1365 2516 2008 01667 x ISSN 1365 2516 PMID 18312365 S2CID 27557689 OMIM Entry 612416 FACTOR XI DEFICIENCY omim org Retrieved 2016 07 12 Kitchens Craig S Konkle Barbara A Kessler Craig M 2013 02 20 Consultative Hemostasis and Thrombosis Elsevier Health Sciences p 70 ISBN 978 1455733293 RESERVED INSERM US14 ALL RIGHTS Orphanet Congenital factor XI deficiency Hemophilia C www orpha net Retrieved 2016 07 12 Orkin Stuart H Nathan David G Ginsburg David Look A Thomas Fisher David E IV Samuel Lux 2014 11 14 Nathan and Oski s Hematology and Oncology of Infancy and Childhood Elsevier Health Sciences p 136 ISBN 9780323291774 Further reading editZucker M Zivelin A Landau M Salomon O Kenet G Bauduer F Samama M Conard J Denninger M H Hani A S Berruyer M Feinstein D Seligsohn U 1 October 2007 Characterization of seven novel mutations causing factor XI deficiency Haematologica 92 10 1375 1380 doi 10 3324 haematol 11526 ISSN 0390 6078 PMID 18024374 Orkin Stuart H Nathan David G 2008 Nathan and Oski s Hematology of Infancy and Childhood Elsevier Health Sciences ISBN 978 1416034308 Retrieved 12 July 2016 Goldman Lee Schafer Andrew I 2016 Goldman Cecil Medicine Elsevieron VitalSource Elsevier Health Sciences ISBN 9780323322850 Retrieved 12 July 2016 External links edit nbsp Scholia has a topic profile for Haemophilia C Retrieved from https en wikipedia org w index php title Haemophilia C amp oldid 1177284404, wikipedia, wiki, book, books, library,
