List of fibrinogen disorders: Difference between revisions

Latest revision as of 19:25, 22 March 2025

List of disorders related to fibrinogen

Overview[edit]

Fibrinogen is a soluble plasma glycoprotein that is synthesized by the liver. It plays a critical role in the coagulation process, where it is converted by thrombin into fibrin, forming a clot. Disorders of fibrinogen can lead to either bleeding or thrombotic complications, depending on the nature of the disorder. These disorders can be congenital or acquired and are often classified based on the levels and functionality of fibrinogen in the blood.

Types of Fibrinogen Disorders[edit]

Fibrinogen disorders are generally categorized into three main types: afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia.

Afibrinogenemia[edit]

Afibrinogenemia is a rare genetic disorder characterized by the complete absence of fibrinogen in the blood. It is an autosomal recessive condition, meaning that an individual must inherit two defective copies of the gene responsible for fibrinogen production to manifest the disorder. Patients with afibrinogenemia typically present with severe bleeding episodes, including umbilical cord bleeding at birth, mucosal bleeding, and spontaneous joint and muscle hemorrhages.

Hypofibrinogenemia[edit]

Hypofibrinogenemia is a condition where there is a lower than normal level of fibrinogen in the blood. It can be inherited in an autosomal dominant or recessive manner. Individuals with hypofibrinogenemia may experience mild to moderate bleeding symptoms, although some may remain asymptomatic. The bleeding tendency is usually less severe than in afibrinogenemia.

Dysfibrinogenemia[edit]

Dysfibrinogenemia is characterized by the presence of structurally abnormal fibrinogen molecules that have impaired function. This condition can be inherited in an autosomal dominant pattern. Patients with dysfibrinogenemia may have a bleeding tendency, a thrombotic tendency, or both, depending on the nature of the fibrinogen abnormality. Some individuals may remain asymptomatic.

Acquired Fibrinogen Disorders[edit]

Acquired fibrinogen disorders can occur due to various conditions such as liver disease, disseminated intravascular coagulation (DIC), and certain medications. These conditions can lead to decreased production or increased consumption of fibrinogen, resulting in bleeding complications.

Diagnosis[edit]

The diagnosis of fibrinogen disorders typically involves a combination of clinical evaluation, family history, and laboratory testing. Laboratory tests may include:

Fibrinogen activity test: Measures the functional activity of fibrinogen in the blood.
Fibrinogen antigen test: Measures the amount of fibrinogen present in the blood.
Genetic testing: Identifies mutations in the genes responsible for fibrinogen production.

Management[edit]

Management of fibrinogen disorders depends on the type and severity of the condition. Treatment options may include:

Fibrinogen replacement therapy: Using fibrinogen concentrates or cryoprecipitate to replace missing or dysfunctional fibrinogen.
Antifibrinolytic agents: Such as tranexamic acid, to prevent excessive bleeding.
Regular monitoring and supportive care: To manage symptoms and prevent complications.

Related pages[edit]

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-Fibrinogen disorders are a set of hereditary or acquired abnormalities in the quantity and/or quality of circulating [[fibrinogen]]s. The disorders may lead to pathological bleeding and/or [[blood clotting]] or the deposition of fibrinogen in the liver, kidneys, or other organs and tissues. These disorders include:
+{{Short description|List of disorders related to fibrinogen}}
-* [[Congenital afibrinogenemia]], an inherited blood disorder in which blood does not clot normally due to the lack of fibrinogen; the disorder causes abnormal bleeding and thrombosis.<ref name="pmid27019462">{{cite journal | vauthors = Casini A, de Moerloose P, Neerman-Arbez M | title = Clinical Features and Management of Congenital Fibrinogen Deficiencies | journal = Seminars in Thrombosis and Hemostasis | volume = 42 | issue = 4 | pages = 366–74 | year = 2016 | pmid = 27019462 | doi = 10.1055/s-0036-1571339 | url = }}</ref>
+{{Use dmy dates|date=October 2023}}
-* [[Congenital hypofibrinogenemia]], an inherited disorder in which blood may not clot normally due to reduced levels of fibrinogen; the disorder may cause abnormal bleeding and thrombosis.<ref name="pmid27019462"/>
-* [[Congenital hypofibrinogenemia#Fibrinogen storage disease|Fibrinogen storage disease]], a form of congenital hypofibrinogenemia in which specific hereditary mutations in fibrinogen cause it to accumulate in, and damage, liver cells. The disorder may lead to abnormal bleeding and thrombosis but also to [[cirrhosis]].<ref name="pmid25990487">{{cite journal | vauthors = Casini A, Sokollik C, Lukowski SW, Lurz E, Rieubland C, de Moerloose P, Neerman-Arbez M | title = Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature | journal = Haemophilia 	 | volume = 21 | issue = 6 | pages = 820–7 | year = 2015 | pmid = 25990487 | doi = 10.1111/hae.12719 | url = }}</ref>
-* [[Dysfibrinogenemia|Congenital dysfibrinogenemia]], an inherited disorder in which normal levels of fibrinogen composed at least in part of a dysfunctional fibrinogen may cause abnormal bleeding and thrombosis.<ref name="pmid25816717">{{cite journal | vauthors = Casini A, Neerman-Arbez M, Ariëns RA, de Moerloose P | title = Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management | journal = Journal of Thrombosis and Haemostasis | volume = 13 | issue = 6 | pages = 909–19 | year = 2015 | pmid = 25816717 | doi = 10.1111/jth.12916 | url = }}</ref>
-* [[Dysfibrinogenemia#Hereditary fibrinogen Aα-Chain amyloidosis|Hereditary fibrinogen Aα-Chain amyloidosis]], a form of dysfibrinogenemia in which certain fibrinogen mutations cause blood fibrinogen to accumulate in the kidney and cause one type of [[familial renal amyloidosis]]; the disorder is not associated with abnormal bleeding or thrombosis.<ref name="pmid19073821">{{cite journal | vauthors = Gillmore JD, Lachmann HJ, Rowczenio D, Gilbertson JA, Zeng CH, Liu ZH, Li LS, Wechalekar A, Hawkins PN | title = Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis | journal = Journal of the American Society of Nephrology | volume = 20 | issue = 2 | pages = 444–51 | year = 2009 | pmid = 19073821 | pmc = 2637055 | doi = 10.1681/ASN.2008060614 | url = }}</ref>
-* [[Dysfibrinogenemia#Acquired dysfibrinogenemia|Acquired dysfibrinogenemia]], a disorder in which normal levels of fibrinogen are composed at least in part of a dysfunctional fibrinogen due to an acquired disorder (e.g. liver disease) that leads to the synthesis of an incorrectly [[glycosylation|glycosylated]] (i.e. wrong amount of sugar residues) added to an otherwise normal fibrinogen. The incorrectly glycosalated fibrinogen is dysfunctional and may cause pathological episodes of bleeding and/or blood clotting.<ref name="pmid27713652">{{cite journal | vauthors = Besser MW, MacDonald SG | title = Acquired hypofibrinogenemia: current perspectives | journal = Journal of Blood Medicine | volume = 7 | issue = | pages = 217–225 | year = 2016 | pmid = 27713652 | pmc = 5045218 | doi = 10.2147/JBM.S90693 | url = }}</ref>
-* [[Hypodysfibrinogenemia|Congenital hypodysfibrinogenemia]], an inherited disorder in which '''low''' levels of fibrinogen composed at least in part of a dysfunctional fibrinogen may cause pathological episodes of bleeding or blood clotting.<ref name="pmid28211264">{{cite journal | vauthors = Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P | title = Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation | journal = Journal of Thrombosis and Haemostasis | volume = 15 | issue = 5 | pages = 876–888 | year = 2017 | pmid = 28211264 | doi = 10.1111/jth.13655 | url = }}</ref>
-* [[Cryofibrinogenemia]], an acquired disorder in which fibrinogen precipitates at cold temperatures and may lead to the intravascular precipitation of fibrinogen, [[fibrin]], and other circulating proteins thereby causing the [[infarction]] of various tissues and bodily extremities.<ref name="pmid28550239">{{cite journal | vauthors = Caimi G, Canino B, Lo Presti R, Urso C, Hopps E | title = Clinical conditions responsible for hyperviscosity and skin ulcers complications | journal = Clinical Hemorheology and Microcirculation | volume = | issue = | pages = | year = 2017 | pmid = 28550239 | doi = 10.3233/CH-160218 | url =https://iris.unipa.it/bitstream/10447/238851/1/CHM%20160218.pdf }}</ref>
-== See also ==
+==Overview==
-*[[Fibrinogen#Fibrinogen disorders]]
+[[Fibrinogen]] is a soluble plasma glycoprotein that is synthesized by the liver. It plays a critical role in the coagulation process, where it is converted by [[thrombin]] into fibrin, forming a clot. Disorders of fibrinogen can lead to either bleeding or thrombotic complications, depending on the nature of the disorder. These disorders can be congenital or acquired and are often classified based on the levels and functionality of fibrinogen in the blood.
-== References ==
+==Types of Fibrinogen Disorders==
-<references />
+Fibrinogen disorders are generally categorized into three main types: afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia.
-[[Category:Lists of diseases|Fibrinogen disorders]]
+===Afibrinogenemia===
+[[Afibrinogenemia]] is a rare genetic disorder characterized by the complete absence of fibrinogen in the blood. It is an autosomal recessive condition, meaning that an individual must inherit two defective copies of the gene responsible for fibrinogen production to manifest the disorder. Patients with afibrinogenemia typically present with severe bleeding episodes, including umbilical cord bleeding at birth, mucosal bleeding, and spontaneous joint and muscle hemorrhages.
+===Hypofibrinogenemia===
+[[Hypofibrinogenemia]] is a condition where there is a lower than normal level of fibrinogen in the blood. It can be inherited in an autosomal dominant or recessive manner. Individuals with hypofibrinogenemia may experience mild to moderate bleeding symptoms, although some may remain asymptomatic. The bleeding tendency is usually less severe than in afibrinogenemia.
+===Dysfibrinogenemia===
+[[Dysfibrinogenemia]] is characterized by the presence of structurally abnormal fibrinogen molecules that have impaired function. This condition can be inherited in an autosomal dominant pattern. Patients with dysfibrinogenemia may have a bleeding tendency, a thrombotic tendency, or both, depending on the nature of the fibrinogen abnormality. Some individuals may remain asymptomatic.
+==Acquired Fibrinogen Disorders==
+Acquired fibrinogen disorders can occur due to various conditions such as liver disease, disseminated intravascular coagulation (DIC), and certain medications. These conditions can lead to decreased production or increased consumption of fibrinogen, resulting in bleeding complications.
+==Diagnosis==
+The diagnosis of fibrinogen disorders typically involves a combination of clinical evaluation, family history, and laboratory testing. Laboratory tests may include:
+* [[Fibrinogen activity test]]: Measures the functional activity of fibrinogen in the blood.
+* [[Fibrinogen antigen test]]: Measures the amount of fibrinogen present in the blood.
+* Genetic testing: Identifies mutations in the genes responsible for fibrinogen production.
+==Management==
+Management of fibrinogen disorders depends on the type and severity of the condition. Treatment options may include:
+* Fibrinogen replacement therapy: Using fibrinogen concentrates or cryoprecipitate to replace missing or dysfunctional fibrinogen.
+* Antifibrinolytic agents: Such as tranexamic acid, to prevent excessive bleeding.
+* Regular monitoring and supportive care: To manage symptoms and prevent complications.
+==Related pages==
+* [[Coagulation disorders]]
+* [[Thrombophilia]]
+* [[Hemophilia]]
+* [[Von Willebrand disease]]
+[[Category:Hematology]]
+[[Category:Coagulation system]]
+[[Category:Genetic disorders]]