Hemophilia C: Difference between revisions
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{{ | {{SK}} Haemophilia type C; haemophilia C; hereditary factor XI deficiency | ||
==Overview== | ==Overview== | ||
'''Hemophilia C''' is a mild form of [[haemophilia]] affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common [[coagulation]] disorder after [[von Willebrand's disease]] and [[haemophilia]] [[Haemophilia A|A]] and [[Haemophilia B|B]]. | '''Hemophilia C''' is a mild form of [[haemophilia]] affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common [[coagulation]] disorder after [[von Willebrand's disease]] and [[haemophilia]] [[Haemophilia A|A]] and [[Haemophilia B|B]]. | ||
It is caused by a deficiency of [[coagulation]] [[factor XI]] | ==Historical Perspective== | ||
Hemophaelia C was first discovered in a young Ashkenazic Jewish American in the 1950s. | |||
==Classification== | |||
==Pathophysiology== | |||
It is caused by a deficiency of [[coagulation]] [[factor XI]]. | |||
===Genetics=== | |||
It has [[autosomal recessive]] inheritance. The gene for factor XI is located on chromosome 4 (close to the prekallikrein gene). Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency. | |||
==Causes== | |||
==Differentiating Hemophilia C from other Diseases== | |||
It is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints. | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
===Natural History=== | |||
===Complications=== | |||
===Prognosis=== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
==Symptoms== | ===History and Symptoms=== | ||
The symptoms of Haemophilia C are the same as those for other forms of Haemophilia, mainly: | The symptoms of Haemophilia C are the same as those for other forms of Haemophilia, mainly: | ||
*Prolonged bleeding from injuries. | *Prolonged bleeding from injuries. | ||
*Frequent or heavy nosebleeds. | *Frequent or heavy nosebleeds. | ||
*Traces of blood in the urine. | *Traces of blood in the urine. | ||
*Females can experience heavy [[menstrual bleeding]] | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
Treatment is usually not necessary, except in relation to [[Surgery|operation]]s, 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. | |||
===Surgery=== | |||
===Prevention=== | |||
== | ==References== | ||
{{reflist|2}} | |||
==Related Chapters== | |||
*[[Haemophilia]] | *[[Haemophilia]] | ||
*[[Haemophilia A]] | *[[Haemophilia A]] | ||
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{{Hematology}} | {{Hematology}} | ||
[[pt:Hemofilia C]] | [[pt:Hemofilia C]] | ||
{{WikiDoc Help Menu}} | |||
{{WikiDoc Sources}} | |||
[[Category:Disease | [[Category:Disease]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
Latest revision as of 13:25, 23 June 2016
| Hemophilia C | |
| ICD-10 | D68.1 |
|---|---|
| ICD-9 | 286.2 |
| OMIM | 264900 |
| DiseasesDB | 29376 |
| MeSH | D005173 |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Haemophilia type C; haemophilia C; hereditary factor XI deficiency
Overview
Hemophilia C is a mild form of haemophilia affecting both sexes. However, it predominantly occurs in Jews of Ashkenazi descent. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B.
Historical Perspective
Hemophaelia C was first discovered in a young Ashkenazic Jewish American in the 1950s.
Classification
Pathophysiology
It is caused by a deficiency of coagulation factor XI.
Genetics
It has autosomal recessive inheritance. The gene for factor XI is located on chromosome 4 (close to the prekallikrein gene). Many mutations exist, and the bleeding risk is not always influenced by the severity of the deficiency.
Causes
Differentiating Hemophilia C from other Diseases
It is distinguished from haemophilia A and B by the fact it does not lead to bleeding into the joints.
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
The symptoms of Haemophilia C are the same as those for other forms of Haemophilia, mainly:
- Prolonged bleeding from injuries.
- Frequent or heavy nosebleeds.
- Traces of blood in the urine.
- Females can experience heavy menstrual bleeding
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
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.