55:
158:). Afibrinogenemia is a recessive inherited disorder, where both parents must be carriers. Hypofibrinogenemia and dysfibrinogenemia can be dominant (i.e. only one parent needs to be a carrier) or recessive. The origin of the disorders is traced back to three possible genes: FGA, FGB, or FGG. Because all three are involved in forming the hexameric glycoprotein fibrinogen, mutations in any one of the three genes can cause the deficiency.
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of hypofibrinogenemia varies from mild to severe, but can include bleeding of the GI tract, oral and mucosal bleeding, and very rarely intracranial bleeding. More commonly it presents during traumatic bleeding or surgical procedures. Most cases (60%) of dysfibrinogenemia are asymptomatic, but 28% exhibit hemorrhaging similar to that described above while 20% exhibit thrombosis (i.e. excessive clotting).
141:
Afibrinogenemia is typically the most severe of the three disorders. Common symptoms include bleeding of the umbilical cord at birth, traumatic and surgical bleeding, GI tract, oral and mucosal bleeding, spontaneous splenic rupture, and rarely intracranial hemorrhage and articular bleeding. Symptoms
132:
Treatment of these disorders generally involves specialized centers and the establishment of preventive measures designed based on each individuals personal and family histories of the frequency and severity of previous bleeding and thrombosis episodes, and, in a select few cases, the predicted
94:
is defined as a lack of fibrinogen in the blood, clinically <20 mg/deciliter of plasma. The frequency of this disorder is estimated at between 0.5 and 2 per million. Within the United States, afibrinogenemia accounts for 24% of all inherited abnormalities of fibrinogen, while
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to increase fibrinogen levels to normal during surgical procedures or after trauma. RiaSTAP, a factor I concentrate, was approved by the U.S. FDA in 2009 for use when the fibrinogen level was below 50 mg/deciliter of plasma. Recently,
111:, and is defined as malfunctioning or non-functioning fibrinogen in the blood, albeit at normal concentrations: 200–400 mg/deciliter of plasma. The congenital disorder is estimated to a frequency varying between 1 and 3 per million.
125:, i.e. propensity, to develop spontaneous bleeding episodes and excessive bleeding after even minor tissue injuries and surgeries; however, individuals with any of these disorders may also exhibit a propensity to pathological
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282:
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Neerman-Arbez M, de
Moerloose P, Casini A (2016). "Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders".
331:
Casini A, Neerman-Arbez M, Ariëns RA, de
Moerloose P (2015). "Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management".
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is defined as a partial deficiency of fibrinogen, clinically 20–80/deciliter of plasma. Estimated frequency varies from <0.5 to 3 per million.
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379:"Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation"
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226:, anticoagulants can be used. Due to the inhibited clotting ability associated with a- and hypofibrinogenemia, anticoagulants including
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C. Merskey; A. J. Johnson; G. J. Kleiner; H. Wohl (1967). "The
Defibrination Syndrome: Clinical Features and Laboratory Diagnosis".
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Fibrinogen deficiency is inherited in an autosomal recessive (shown above) or autosomal dominant manner.
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propensity of the genetic mutations which underlie their disorders to cause bleeding and thrombosis.
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Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de
Moerloose P (2017).
222:(breaking down of the fibrin clot). In the case of dysfibrinogenemia that manifests by
154:, although certain liver diseases can also affect fibrinogen levels and function (e.g.
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87:: afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia.
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is an extremely rare, partial deficiency of fibrinogen that is also malfunctioning.
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Clinically, these disorders are generally associated with an increased
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The disorders associated with Factor I deficiency are generally
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hypofibrinogenemia and dysfibrinogenemia account for 38% each.
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Acharya, Suchitra S (2019-02-02). Tebbi, Cameron K (ed.).
592:"Rare Clotting Factor Deficiencies (Treatment options)"
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620:
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533:"Congenital Fibrinogen Deficiency via the FGB Gene"
83:. It is typically subclassified into four distinct
75:, is a rare inherited bleeding disorder related to
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493:"Hemostatic Defects in End Stage Liver Disease"
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27:For the protein of the complement system, see
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248:"What is factor I (fibrinogen) deficiency?"
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552:"Rare inherited disorders of fibrinogen"
48:Immunodeficiency with fibrinogen anomaly
311:"Inherited Abnormalities of Fibrinogen"
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423:Seminars in Thrombosis and Hemostasis
383:Journal of Thrombosis and Haemostasis
333:Journal of Thrombosis and Haemostasis
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205:The most common type of treatment is
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209:a fibrinogen concentrate used in a
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550:Acharya SS, Dimichele DM (2008).
569:10.1111/j.1365-2516.2008.01831.x
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115:Congenital hypodysfibrinogenemia
218:have also been used to inhibit
466:British Journal of Haematology
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99:Congenital hypofibrinogenemia
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92:Congenital afibrinogenemia
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512:10.1016/j.ccc.2005.03.002
491:Jody L. Kujovich (2005).
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435:10.1055/s-0036-1571340
178:This section is empty.
109:congenital or acquired
500:Critical Care Clinics
283:"Factor I Deficiency"
230:are advised against.
69:Fibrinogen deficiency
40:Fibrinogen deficiency
710:Congenital disorders
85:fibrinogen disorders
81:coagulation cascade
73:factor I deficiency
29:complement factor I
18:Factor I Deficiency
669:External resources
137:Signs and symptoms
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396:10.1111/jth.13655
345:10.1111/jth.12916
216:antifibrinolytics
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105:Dysfibrinogenemia
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34:Medical condition
16:(Redirected from
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556:Haemophilia
45:Other names
699:Categories
606:"Factor I"
506:(3): 563.
234:References
224:thrombosis
129:episodes.
127:thrombosis
77:fibrinogen
201:Treatment
162:Diagnosis
156:cirrhosis
152:inherited
123:diathesis
678:Orphanet
578:19141154
451:12693693
443:27019463
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361:10955092
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228:aspirin
107:may be
683:200418
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146:Causes
648:D68.2
519:(PDF)
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447:S2CID
357:S2CID
654:OMIM
574:PMID
439:PMID
401:PMID
349:PMID
211:drip
639:ICD
564:doi
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