Factor X deficiency: Difference between revisions

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{{Infobox medical condition (new)
 
| name           = Factor X deficiency
{{Infobox medical condition
| synonyms        = Stuart-Prower factor deficiency
| name = Factor X deficiency
| image          = File:Autosomal recessive - en.svg
| image = <!-- Image removed -->
| alt            =
| caption =  
| caption         = Factor X deficiency is inherited in an autosomal recessive manner
| field = Hematology
| pronounce      =  
| symptoms = Easy bruising, nosebleeds, bleeding gums, heavy menstrual periods
| field           =  
| complications = Hemorrhage
| symptoms       =  
| onset = Congenital or acquired
| complications   =  
| duration = Lifelong
| onset           =  
| causes = Genetic mutation, liver disease, vitamin K deficiency
| duration       =
| diagnosis = Blood tests, genetic testing
| types          =  
| treatment = Plasma transfusion, prothrombin complex concentrates
| causes         =
| frequency = Rare
| risks          =  
| diagnosis       =
| differential    =
| prevention      =  
| treatment       =
| medication      =
| prognosis      =  
| frequency       =
| deaths          =  
}}
}}
'''Factor X deficiency''' (X as [[Roman numeral]] ten)  is a [[Bleeding diathesis|bleeding disorder]] characterized by a lack in the production of [[factor X]] (FX), an enzyme protein that causes blood to clot in the [[coagulation cascade]]. Produced in the liver FX when activated cleaves [[prothrombin]] to generate [[thrombin]] in the intrinsic pathway of coagulation. This process is [[vitamin K]] dependent and enhanced by activated [[factor V]].


The condition may be inherited or, more commonly, acquired.
'''Factor X deficiency''' is a rare [[bleeding disorder]] characterized by a deficiency of [[Factor X]], a [[protein]] involved in the [[blood coagulation]] process. This condition can be either [[congenital]] or [[acquired]].


==Signs and symptoms==
== Causes ==
Symptoms may differ greatly, as apparently modifiers control to some degree the amount of FX that is produced. Some affected individuals have few or no symptoms while others may experience life-threatening bleeding. Typically this bleeding disorder manifests itself as a tendency to easy bruising, nose bleeding, heavy and prolonged  menstruation and bleeding during pregnancy and childbirth, and excessive bleeding after dental or surgical interventions. Newborns may bleed in the head, from the umbilicus, or excessively after circumcision. Other bleeding can be encountered in muscles or joints, brain, gut, or urine.
Factor X deficiency can be caused by [[genetic mutations]] that affect the production or function of Factor X. It can also be acquired due to conditions such as [[liver disease]], [[vitamin K deficiency]], or the use of certain [[anticoagulant medications]].


While in congenital disease symptoms may be present at birth or show up later, in patients with acquired FX deficiency symptoms typically show up in later life.
== Symptoms ==
Individuals with Factor X deficiency may experience symptoms such as:
* Easy [[bruising]]
* [[Nosebleeds]]
* [[Bleeding gums]]
* Heavy [[menstrual periods]]
* Prolonged [[bleeding]] after injury or surgery


==Causes==
== Diagnosis ==
Inherited or congenital FX deficiency is passed on by [[autosomal recessive]] inheritance. A person needs to inherit a defective gene from both parents. People who have only one defective gene usually do not exhibit the disease, but can pass the gene on to half their offspring. Different [[genetic mutation]]s have been described.
Diagnosis of Factor X deficiency involves [[blood tests]] to measure the activity of Factor X. [[Genetic testing]] may also be conducted to identify mutations in the [[F10 gene]].


In persons with congenital FX deficiency the condition is lifelong. People affected should alert other family members as they may also have the condition or carry the gene. In the general population the condition affects about 1 in 1 million people. However, the prevalence may be higher as not all individuals may express the disease and be diagnosed.
== Treatment ==
Treatment options for Factor X deficiency include:
* [[Plasma transfusion]] to provide the missing clotting factors
* Administration of [[prothrombin complex concentrates]]
* [[Vitamin K]] supplementation in cases of deficiency


In the acquired form of FX deficiency an insufficient amount of factor X is produced by the liver due to liver disease, [[vitamin K deficiency]], buildup of abnormal proteins in organs ([[amyloidosis]]) or certain medications (i.e. [[warfarin]]).
== Complications ==
Without proper management, individuals with Factor X deficiency are at risk of severe [[hemorrhage]], which can be life-threatening.


==Diagnosis==
== See also ==
Blood tests are needed to differentiate FX deficiency from other bleeding disorders.<ref name=medline/> Typical are  normal [[thrombin time]], prolonged [[prothrombin time]] (PT) and prolonged [[partial thromboplastin time]](PTT).
* [[Coagulation disorders]]
# Type I has low levels of FX antigen and activity.
* [[Hemophilia]]
# Type II has low coagulant activity but normal or borderline FX antigen levels.
* [[Von Willebrand disease]]


The FX (F10) gene is found on [[chromosome 13|chromosome 13q34]]. Heterogeneous mutations have been described in FX deficient patients.
== References ==
 
{{Reflist}}
==Treatment==
There are several treatments available for bleeding due to factor X deficiency. A specific FX concentrate was not available {{as of|2009|lc=y}}.
# [[Prothrombin complex concentrate]] (PCC) supplies FX with a risk of thrombosis.
# [[Fresh frozen plasma]] (FFP): This is relatively inexpensive and readily available. While effective this treatment carries a risk of blood-borne viruses and fluid overload.
# If vitamin K levels are low, vitamin K can be supplied orally or parenterally.
 
Treatment of FX deficiency in amyloidosis may be more complex and involve surgery ([[splenectomy]]) and chemotherapy.
 
==History==
The condition was described independently in the 1950s. Telfer and coworkers described a female patient named Prower in 1956 and Hougie and coworker described a male patient named Stuart in 1957. When experiments showed that serum from these two patients lacked the same factor, these two patients were the first people identified with FX deficiency and the factor was called Stuart-Prower factor, later factor X.


== External links ==
== External links ==
{{Medical resources
* [https://www.hemophilia.org/ National Hemophilia Foundation]
|  ICD10          = D68.2
* [https://www.rarediseases.org/ National Organization for Rare Disorders]
|  ICD9            = <!--{{ICD9|xxx}}-->
|  ICDO            =
|  OMIM            = 227600
|  DiseasesDB      =
|  MedlinePlus    = 000553
|  eMedicineSubj  = article
|  eMedicineTopic  = 209867
|  MeSH            =
|  GeneReviewsNBK  =
|  GeneReviewsName =
|  Orphanet        = 328
}}
{{Diseases of megakaryocytes}}


[[Category:Bleeding]]
[[Category:Coagulation system]]
[[Category:Coagulopathies]]
[[Category:Genetic disorders]]
{{rarediseases}}
[[Category:Hematology]]
{{stub}}
[[Category:Rare diseases]]

Revision as of 04:32, 29 December 2024


Factor X deficiency
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Easy bruising, nosebleeds, bleeding gums, heavy menstrual periods
Complications Hemorrhage
Onset Congenital or acquired
Duration Lifelong
Types N/A
Causes Genetic mutation, liver disease, vitamin K deficiency
Risks N/A
Diagnosis Blood tests, genetic testing
Differential diagnosis N/A
Prevention N/A
Treatment Plasma transfusion, prothrombin complex concentrates
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Factor X deficiency is a rare bleeding disorder characterized by a deficiency of Factor X, a protein involved in the blood coagulation process. This condition can be either congenital or acquired.

Causes

Factor X deficiency can be caused by genetic mutations that affect the production or function of Factor X. It can also be acquired due to conditions such as liver disease, vitamin K deficiency, or the use of certain anticoagulant medications.

Symptoms

Individuals with Factor X deficiency may experience symptoms such as:

Diagnosis

Diagnosis of Factor X deficiency involves blood tests to measure the activity of Factor X. Genetic testing may also be conducted to identify mutations in the F10 gene.

Treatment

Treatment options for Factor X deficiency include:

Complications

Without proper management, individuals with Factor X deficiency are at risk of severe hemorrhage, which can be life-threatening.

See also

References

<references group="" responsive="1"></references>


External links

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