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Factor I deficiency, also known as fibrinogen deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the blood coagulation cascade. It is typically subclassified into three distinct disorders: afibrinogenemia, hypofibrinogenemia, or dysfibrinogenemia.^[1] Afibrinogenemia 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.^[2] Hypofibrinogenemia is defined as a partial deficiency of fibrinogen, clinically 20–80 mg/deciliter of plasma. Estimated frequency varies from <0.5 to 3 per million.^[2]^[3] Dysfibrinogenemia is defined as malfunctioning or non-functioning fibrinogen in the blood, albeit at normal concentrations: 200–400 mg/deciliter of plasma. Hypodysfibrinogenemia is a partial deficiency of fibrinogen that is also malfunctioning. Estimated frequency varies from 1 to 3 per million.^[2]^[3] Within the United States, afibrinogenemia accounts for 24% of all inherited abnormalities of fibrinogen, while hypofibrinogenemia and dysfibrinogenemia account for 38% each.^[3]

Causes

The disorders associated with Factor I deficiency are generally inherited,^[2]^[3] although certain liver diseases can also affect fibrinogen levels and function (e.g. cirrhosis).^[4] Afibrinogenemia is a recessive inherited disorder, where both parents must be carriers.^[2] Hypofibrinogenemia and dysfibrinogenemia can be dominant (i.e. only one parent needs to be a carrier) or recessive.^[2] 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.^[5]^[6]

Symptoms

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 splenal rupture, and rarely intracranial hemorrhage and articular bleeding.^[2]^[7] Symptoms 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.^[2]^[3] Most cases (60%) of dyfibrinogenemia are asymptomatic, but 28% exhibit hemorrhaging similar to that described above while 20% exhibit thrombosis (i.e. excessive clotting).^[3]

Treatment

The most common type of treatment is cryoprecipitate or fibrinogen concentrate drip to increase fibrinogen levels to normal during surgical procedures or after trauma.^[1]^[2]^[3] RiaSTAP, a factor I concentrate, was approved by the U.S. FDA in 2009 for use in cases where the fibrinogen level was below 50 mg/deciliter of plasma.^[8] Recently, antifibrinolytics have also been used to inhibit fibrinolysis (breaking down of the fibrin clot).^[1]^[9] In the case of dysfibrinogenemia that manifests by thrombosis, anticoagulants can be used.^[2] Due to the inhibited clotting ability associated with a- and hypofibrinogenemia, physicians advise against the use of Aspirin as it is known to inhibit platelet function.^[2]

References

^ ^a ^b ^c "What is factor I (fibrinogen) deficiency?".
^ ^a ^b ^c ^d ^e ^f ^g ^h ⁱ ^j ^k "Factor I Deficiency".
^ ^a ^b ^c ^d ^e ^f ^g Vinod V Balasa, MD. "Inherited Abnormalities of Fibrinogen".
^ Jody L. Kujovich. "Hemostatic Defects in End Stage Liver Disease" (PDF). Critical Care Clinics 21. p. 563. doi:10.1016/j.ccc.2005.03.002.
^ "Congenital Fibrinogen Deficiency via the FGB Gene".
^ Acharya SS, Dimichele DM (2008). "Rare inherited disorders of fibrinogen". Haemophilia 14 (6): 1151. doi:10.1111/j.1365-2516.2008.01831.x. PMID 19141154.
^ C. Merskey,A. J. Johnson,G. J. Kleiner,H. Wohl (1967). "The Defibrination Syndrome: Clinical Features and Laboratory Diagnosis". British Journal of Haematology 13. p. 528. doi:10.1111/j.1365-2141.1967.tb00762.x.
^ "Factor I".
^ Vinod V Balasa, MD. "Inherited Abnormalities of Fibrinogen".

UpToDate Contents

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1. フィブリノゲンの異常 disorders of fibrinogen
2. 出血性素因を有する成人患者へのアプローチ approach to the adult patient with a bleeding diathesis
3. 幼児および小児における播種性血管内凝固 disseminated intravascular coagulation in infants and children
4. 出血症状を有する小児に対するアプローチ approach to the child with bleeding symptoms
5. 双胎妊娠：出産前の問題 twin pregnancy prenatal issues

English Journal

Cryoprecipitate transfusion: assessing appropriateness and dosing in trauma.

Nascimento B, Rizoli S, Rubenfeld G, Fukushima R, Ahmed N, Nathens A, Lin Y, Callum J.SourceDepartment of Critical Care & Clinical Pathology & Surgery Department of Surgery & Critical Care Department of Critical Care Department of Surgery, Sunnybrook Health Sciences Center Department of Surgery & Critical care, Saint Michael's Hospital Department of Clinical Pathology Department of Medicine, Division of Hematology, Sunnybrook Health Sciences Center, University of Toronto, Toronto, Ontario, Canada.
Transfusion medicine (Oxford, England).Transfus Med.2011 Aug 18. doi: 10.1111/j.1365-3148.2011.01098.x. [Epub ahead of print]
Background: Originally developed for patients with congenital factor VIII deficiency, cryoprecipitate is currently largely used for acquired hypofibrinogenemia in the context of bleeding. However, scant evidence supports this indication and cryoprecipitate is commonly used outside guidelines. In tra
PMID 21851429

Septic Shock and Hypofibrinogenemia Predict a Fatal Outcome in Childhood Acute Acalculous Cholecystitis.

Huang SC, Yang YJ.Source* From the Department of Pediatrics, Kuo General Hospital, Tainan † Department of Pediatrics, National Cheng Kung University and Hospital, Tainan, Taiwan.
Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2011 Aug 8. [Epub ahead of print]
OBJECTIVES: The aim of the study was to investigate the etiology, clinical presentation, and risk factors for poor prognosis of acute acalculous cholecystitis (AAC) in children.PATIENTS AND METHODS: Children aged less than 18 years old diagnosed with AAC were analyzed retrospectively from 2000 to 20
PMID 21832944

Japanese Journal

バルプロ酸とACTHの併用による低フィブリノゲン血症

曽我菜海,赤坂真奈美,亀井淳,佐々木慎,遠藤正宏,鈴木悠,松下翔子,千田勝一
てんかん研究 28(3), 416-421, 2011
West症候群の発作再発に対し、バルプロ酸に併用してACTH療法を開始したところ、出血傾向と低フィブリノゲン血症（45.4mg/dl ）をきたした症例を経験した。このため、その後に同様の併用療法を行ったWest症候群の3例において、血中フィブリノゲンを測定した。この結果、ACTH療法中に全例で軽度の一過性低フィブリノゲン血症（122.3?139.0mg/dl 、基準値170?405mg/dl ）が …
NAID 130000420318

In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A > G causing abnormal RNA splicing

Terasawa F,Kamijyo Y,Fujihara N,Yamauchi K,Kumagai T,Honda T,Shigematsu S,Okumura N
Clinica Chimica Acta 411(17-18), 1325-1329, 2010-09-06
NAID 120002224317