Congenital afibrinogenemia

Congenital afibrinogenemia
Congenital afibrinogenemia
Classification and external resources
ICD-10 D65
ICD-9 286.3
OMIM 202400
DiseasesDB 307
MedlinePlus 001313
eMedicine ped/3042
MeSH D000347

Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation. [1]

Fibrinogen is also known as Factor I. Its lack is inherited in an autosomic recessive way. It can express itself with excessive bleeding since birth (bleeding from umbilical cord, easy bruising, bleeding after circumcision) [2]

Diagnostic tests

When a problem of fibrinogen is suspected, the following tests can be ordered:



Fibrinogen level in blood (total and clottable)

Reptilase time

Trombin time[3]

Condition Prothrombin time Partial thromboplastin time Bleeding time Platelet count
Vitamin K deficiency or warfarin prolonged prolonged unaffected unaffected
Disseminated intravascular coagulation prolonged prolonged prolonged decreased
von Willebrand disease unaffected prolonged prolonged unaffected
Haemophilia unaffected prolonged unaffected unaffected
Aspirin unaffected unaffected prolonged unaffected
Thrombocytopenia unaffected unaffected prolonged decreased
Early Liver failure prolonged unaffected unaffected unaffected
End-stage Liver failure prolonged prolonged prolonged decreased
Uremia unaffected unaffected prolonged unaffected
Congenital afibrinogenemia prolonged prolonged prolonged unaffected
Factor V deficiency prolonged prolonged unaffected unaffected
Factor X deficiency as seen in amyloid purpura prolonged prolonged unaffected unaffected
Glanzmann's thrombasthenia unaffected unaffected prolonged unaffected
Bernard-Soulier syndrome unaffected unaffected prolonged unaffected [4]


  1. ^ Neerman-Arbez M, de Moerloose P (2007). "Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations". Hum. Mutat. 28 (6): 540–53. doi:10.1002/humu.20483. PMID 17295221. 
  2. ^ National Hemophilia foundation
  3. ^ Brick Wendy,MD, Burgess Rusell,MD, Dysfibrogenemia
  4. ^ Kaplan QBook - USMLE Step 1 - 5th edition - page 254

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Look at other dictionaries:

  • congenital afibrinogenemia — noun a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma • Hypernyms: ↑afibrinogenemia, ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑inherited… …   Useful english dictionary

  • congenital afibrinogenemia — a rare autosomal recessive hemorrhagic coagulation disorder caused by mutations in any of the three genes (locus: 4q28) encoding fibrinogen subunits, characterized by complete incoagulability of the blood; hemorrhagic manifestations vary from… …   Medical dictionary

  • Afibrinogenemia — 220px Formación de fibrina durante el proceso de formación de trombos que detienen el sangrado Clasificación y recursos externos Medline …   Wikipedia Español

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  • Congenital hypoplastic anemia — Classification and external resources ICD 10 D61.0 ICD 9 284.0 …   Wikipedia

  • afibrinogenemia — noun the absence of fibrinogen in the plasma leading to prolonged bleeding • Hypernyms: ↑blood disease, ↑blood disorder • Hyponyms: ↑congenital afibrinogenemia * * * |āˌ noun ( s) …   Useful english dictionary

  • congenital disease — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑inherited disease, ↑inherited disorder, ↑hereditary disease, ↑ …   Useful english dictionary

  • afibrinogenemia — The absence of fibrinogen in the plasma. SEE ALSO: hypofibrinogenemia. congenital a. [MIM*202400] a rare disorder of blood coagulation in which little or no fibrinogen can be found in plasma because of a mutant …   Medical dictionary

  • Coagulation — This article is about blood clotting. For other meanings see Coagulation (disambiguation). Coagulation is a complex process by which blood forms clots. It is an important part of hemostasis, the cessation of blood loss from a damaged vessel,… …   Wikipedia

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