Congenital hypofibrinogenemia: Difference between revisions
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{{Infobox medical condition | |||
| name = Congenital hypofibrinogenemia | |||
| synonyms = | |||
| image = | |||
| caption = | |||
| field = [[Hematology]] | |||
| symptoms = Mild bleeding tendency | |||
| complications = [[Hemorrhage]], [[thrombosis]] | |||
| onset = [[Birth]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Afibrinogenemia]], [[dysfibrinogenemia]] | |||
| prevention = None | |||
| treatment = [[Fibrinogen concentrate]], [[fresh frozen plasma]] | |||
| medication = | |||
| prognosis = Generally good with treatment | |||
| frequency = Rare | |||
}} | |||
'''Congenital hypofibrinogenemia''' is a rare, inherited blood disorder characterized by the low levels of [[fibrinogen]] in the blood. Fibrinogen is a protein that plays a crucial role in blood clotting. | '''Congenital hypofibrinogenemia''' is a rare, inherited blood disorder characterized by the low levels of [[fibrinogen]] in the blood. Fibrinogen is a protein that plays a crucial role in blood clotting. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of congenital hypofibrinogenemia can vary greatly from person to person. Some individuals may have no symptoms (asymptomatic) while others may experience excessive bleeding or [[thrombosis]]. | The symptoms of congenital hypofibrinogenemia can vary greatly from person to person. Some individuals may have no symptoms (asymptomatic) while others may experience excessive bleeding or [[thrombosis]]. | ||
== Causes == | == Causes == | ||
Congenital hypofibrinogenemia is caused by mutations in the [[FGA]], [[FGB]], or [[FGG]] genes. These genes provide instructions for making the three parts (alpha, beta, and gamma chains) of the fibrinogen protein. | Congenital hypofibrinogenemia is caused by mutations in the [[FGA]], [[FGB]], or [[FGG]] genes. These genes provide instructions for making the three parts (alpha, beta, and gamma chains) of the fibrinogen protein. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of congenital hypofibrinogenemia is based on a clinical evaluation, detailed patient history, and specialized laboratory tests that can measure the amount of fibrinogen in the blood. | Diagnosis of congenital hypofibrinogenemia is based on a clinical evaluation, detailed patient history, and specialized laboratory tests that can measure the amount of fibrinogen in the blood. | ||
== Treatment == | == Treatment == | ||
Treatment is directed toward the specific symptoms that are apparent in each individual. In some cases, treatment may not be necessary. In other cases, treatment may include [[fibrinogen concentrate]] or [[cryoprecipitate]] to replace the missing fibrinogen. | Treatment is directed toward the specific symptoms that are apparent in each individual. In some cases, treatment may not be necessary. In other cases, treatment may include [[fibrinogen concentrate]] or [[cryoprecipitate]] to replace the missing fibrinogen. | ||
== See also == | == See also == | ||
* [[Blood clot]] | * [[Blood clot]] | ||
* [[Coagulation]] | * [[Coagulation]] | ||
* [[Hemostasis]] | * [[Hemostasis]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
== External links == | == External links == | ||
* [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98873 Orphanet] | * [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98873 Orphanet] | ||
* [https://rarediseases.org/rare-diseases/congenital-afibrinogenemia/ National Organization for Rare Disorders (NORD)] | * [https://rarediseases.org/rare-diseases/congenital-afibrinogenemia/ National Organization for Rare Disorders (NORD)] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 00:16, 4 April 2025
| Congenital hypofibrinogenemia | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Mild bleeding tendency |
| Complications | Hemorrhage, thrombosis |
| Onset | Birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Afibrinogenemia, dysfibrinogenemia |
| Prevention | None |
| Treatment | Fibrinogen concentrate, fresh frozen plasma |
| Medication | |
| Prognosis | Generally good with treatment |
| Frequency | Rare |
| Deaths | N/A |
Congenital hypofibrinogenemia is a rare, inherited blood disorder characterized by the low levels of fibrinogen in the blood. Fibrinogen is a protein that plays a crucial role in blood clotting.
Symptoms[edit]
The symptoms of congenital hypofibrinogenemia can vary greatly from person to person. Some individuals may have no symptoms (asymptomatic) while others may experience excessive bleeding or thrombosis.
Causes[edit]
Congenital hypofibrinogenemia is caused by mutations in the FGA, FGB, or FGG genes. These genes provide instructions for making the three parts (alpha, beta, and gamma chains) of the fibrinogen protein.
Diagnosis[edit]
Diagnosis of congenital hypofibrinogenemia is based on a clinical evaluation, detailed patient history, and specialized laboratory tests that can measure the amount of fibrinogen in the blood.
Treatment[edit]
Treatment is directed toward the specific symptoms that are apparent in each individual. In some cases, treatment may not be necessary. In other cases, treatment may include fibrinogen concentrate or cryoprecipitate to replace the missing fibrinogen.
See also[edit]
References[edit]
<references />
