Haemophilia C
| Haemophilia C | |
|---|---|
 | |
| Haemophilia C caused by deficiency in Factor XI[1] | |
| Classification and external resources | |
| Specialty | Haematology |
| ICD-10 | D68.1 |
| ICD-9-CM | 286.2 |
| OMIM | 264900 |
| DiseasesDB | 29376 |
| eMedicine | ped/964 med/3515 |
| MeSH | D005173 |
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.[2] However, it predominantly occurs in Jewish people of Ashkenazi descent. 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][3]
Symptoms
In terms of the signs/symptoms of hemophilia 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.[4] However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following:[5]
- Oral bleeding.
- Nosebleeds.
- Blood in the urine.
- Post-partum hemorrhage (20% of cases)
- Tonsils(bleeding)
Cause
Hemophilia 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][6]
Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. Hemophilia C is developed on occasion in individuals with systemic lupus erythematosus, because of inhibitors to the FXI protein.[1][7]
Diagnosis
The diagnosis of hemophilia C (factor XI deficiency) is centered on prolonged activated partial thromboplastin time.One will find that the factor XI has decreased in the individuals body.In terms of differential diagnosis one must consider:factor VIII deficiency, lupus anticoagulant and heparin contamination.[2][8]
Treatment
In terms of hemophilia C medication cyklokapron is often used for both treatment after an incident of bleeding and as a preventative measure to avoid excessive bleeding during oral surgery.[9]
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.[2][10]
The afflicted may often suffer 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.
See also
References
- 1 2 3 4 eMedicine - Hemophilia C : Article by Prasad Mathew, MBBS, DCH
- 1 2 3 "Factor XI Deficiency: Background, Pathophysiology, Epidemiology".
- ↑ "Factor XI deficiency | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. 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.
- ↑ 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.
- ↑ "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 1455733296.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Congenital factor XI deficiency Hemophilia C". www.orpha.net. Retrieved 2016-07-12.
- ↑ 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. Retrieved 9 July 2016.
- ↑ 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
- 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. Retrieved 12 July 2016.
- Orkin, Stuart H.; Nathan, David G. (2008). Nathan and Oski's Hematology of Infancy and Childhood. Elsevier Health Sciences. ISBN 1416034307. Retrieved 12 July 2016.
- Goldman, Lee; Schafer, Andrew I. (2016). Goldman-Cecil Medicine Elsevieron VitalSource. Elsevier Health Sciences. ISBN 9780323322850. Retrieved 12 July 2016.
