Factor XII deficiency: Difference between revisions
No edit summary Tag: Manual revert |
CSV import |
||
| Line 1: | Line 1: | ||
{{Infobox medical condition | |||
| name = Factor XII deficiency | |||
| synonyms = Hageman factor deficiency | |||
| field = [[Hematology]] | |||
| symptoms = Usually asymptomatic, prolonged [[activated partial thromboplastin time]] (aPTT) | |||
| complications = Rarely [[thrombosis]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Genetic mutation in the [[F12 gene]] | |||
| risks = Family history | |||
| diagnosis = Blood tests showing prolonged aPTT, normal [[prothrombin time]] (PT) | |||
| differential = Other causes of prolonged aPTT | |||
| treatment = Usually none required | |||
| prognosis = Excellent, as it is usually asymptomatic | |||
| frequency = Rare | |||
}} | |||
'''Factor XII deficiency''' is a rare genetic disorder characterized by an increased risk of blood clotting (thrombosis) and reduced ability to control bleeding. The condition is caused by a deficiency in a protein called factor XII, which plays a crucial role in the body's blood clotting process. | '''Factor XII deficiency''' is a rare genetic disorder characterized by an increased risk of blood clotting (thrombosis) and reduced ability to control bleeding. The condition is caused by a deficiency in a protein called factor XII, which plays a crucial role in the body's blood clotting process. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Factor XII deficiency can vary greatly from person to person. Some individuals may experience no symptoms at all, while others may have severe bleeding problems. Common symptoms include: | The symptoms of Factor XII deficiency can vary greatly from person to person. Some individuals may experience no symptoms at all, while others may have severe bleeding problems. Common symptoms include: | ||
* [[Bleeding gums]] | * [[Bleeding gums]] | ||
* [[Nosebleeds]] | * [[Nosebleeds]] | ||
| Line 9: | Line 24: | ||
* [[Heavy menstrual periods]] | * [[Heavy menstrual periods]] | ||
* [[Prolonged bleeding from cuts]] | * [[Prolonged bleeding from cuts]] | ||
== Causes == | == Causes == | ||
Factor XII deficiency is caused by mutations in the F12 gene. This gene provides instructions for making factor XII, a protein that is involved in the body's blood clotting process. Mutations in the F12 gene can lead to a deficiency in factor XII, which can disrupt the normal blood clotting process and lead to the symptoms of Factor XII deficiency. | Factor XII deficiency is caused by mutations in the F12 gene. This gene provides instructions for making factor XII, a protein that is involved in the body's blood clotting process. Mutations in the F12 gene can lead to a deficiency in factor XII, which can disrupt the normal blood clotting process and lead to the symptoms of Factor XII deficiency. | ||
== Diagnosis == | == Diagnosis == | ||
Factor XII deficiency is typically diagnosed through blood tests that measure the level of factor XII in the body. A low level of factor XII can indicate a deficiency. Genetic testing may also be used to confirm the diagnosis. | Factor XII deficiency is typically diagnosed through blood tests that measure the level of factor XII in the body. A low level of factor XII can indicate a deficiency. Genetic testing may also be used to confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Factor XII deficiency. Treatment typically involves managing the symptoms and preventing complications. This may include: | There is currently no cure for Factor XII deficiency. Treatment typically involves managing the symptoms and preventing complications. This may include: | ||
* [[Blood transfusions]] | * [[Blood transfusions]] | ||
* [[Anticoagulant medications]] | * [[Anticoagulant medications]] | ||
* [[Hormone therapy]] | * [[Hormone therapy]] | ||
== See also == | == See also == | ||
* [[Blood clot]] | * [[Blood clot]] | ||
* [[Thrombosis]] | * [[Thrombosis]] | ||
* [[Coagulation]] | * [[Coagulation]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 05:48, 4 April 2025
| Factor XII deficiency | |
|---|---|
| Synonyms | Hageman factor deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Usually asymptomatic, prolonged activated partial thromboplastin time (aPTT) |
| Complications | Rarely thrombosis |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the F12 gene |
| Risks | Family history |
| Diagnosis | Blood tests showing prolonged aPTT, normal prothrombin time (PT) |
| Differential diagnosis | Other causes of prolonged aPTT |
| Prevention | N/A |
| Treatment | Usually none required |
| Medication | N/A |
| Prognosis | Excellent, as it is usually asymptomatic |
| Frequency | Rare |
| Deaths | N/A |
Factor XII deficiency is a rare genetic disorder characterized by an increased risk of blood clotting (thrombosis) and reduced ability to control bleeding. The condition is caused by a deficiency in a protein called factor XII, which plays a crucial role in the body's blood clotting process.
Symptoms[edit]
The symptoms of Factor XII deficiency can vary greatly from person to person. Some individuals may experience no symptoms at all, while others may have severe bleeding problems. Common symptoms include:
Causes[edit]
Factor XII deficiency is caused by mutations in the F12 gene. This gene provides instructions for making factor XII, a protein that is involved in the body's blood clotting process. Mutations in the F12 gene can lead to a deficiency in factor XII, which can disrupt the normal blood clotting process and lead to the symptoms of Factor XII deficiency.
Diagnosis[edit]
Factor XII deficiency is typically diagnosed through blood tests that measure the level of factor XII in the body. A low level of factor XII can indicate a deficiency. Genetic testing may also be used to confirm the diagnosis.
Treatment[edit]
There is currently no cure for Factor XII deficiency. Treatment typically involves managing the symptoms and preventing complications. This may include:
See also[edit]
References[edit]
<references />
