Congenital afibrinogenemia

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Congenital afibrinogenemia
Classification and external resources
ICD-10 D68.2
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[edit]

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

PT

PTT

Fibrinogen level in blood (total and clottable)

Reptilase time

Thrombin time[3]

Laboratory findings in various platelet and coagulation disorders (V - T)
Condition Prothrombin time Partial thromboplastin time Bleeding time Platelet count
Vitamin K deficiency or warfarin Prolonged Normal or mildly prolonged Unaffected Unaffected
Disseminated intravascular coagulation Prolonged Prolonged Prolonged Decreased
Von Willebrand disease Unaffected Prolonged or unaffected Prolonged Unaffected
Hemophilia Unaffected Prolonged Prolonged Unaffected
Aspirin Unaffected Unaffected Prolonged Unaffected
Thrombocytopenia Unaffected Unaffected Prolonged Decreased
Liver failure, early Prolonged Unaffected Unaffected Unaffected
Liver failure, end-stage 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 Decreased or unaffected
Factor XII deficiency Unaffected Prolonged Unaffected Unaffected
C1INH deficiency Unaffected Shortened Unaffected Unaffected

References[edit]

  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 http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=184&contentid=44&rptname=bleeding .
  3. ^ Brick Wendy,MD, Burgess Rusell,MD, Dysfibrogenemia http://emedicine.medscape.com/article/199723-diagnosis