Congenital afibrinogenemia

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Congenital afibrinogenemia
Classification and external resources
ICD-10D68.2
ICD-9286.3
OMIM202400
DiseasesDB307
MedlinePlus001313
eMedicineped/3042
MeSHD000347
 
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Congenital afibrinogenemia
Classification and external resources
ICD-10D68.2
ICD-9286.3
OMIM202400
DiseasesDB307
MedlinePlus001313
eMedicineped/3042
MeSHD000347

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)
ConditionProthrombin timePartial thromboplastin timeBleeding timePlatelet count
Vitamin K deficiency or warfarinProlongedNormal or mildly prolongedUnaffectedUnaffected
Disseminated intravascular coagulationProlongedProlongedProlongedDecreased
Von Willebrand diseaseUnaffectedProlonged or unaffectedProlongedUnaffected
HemophiliaUnaffectedProlongedUnaffectedUnaffected
AspirinUnaffectedUnaffectedProlongedUnaffected
ThrombocytopeniaUnaffectedUnaffectedProlongedDecreased
Liver failure, earlyProlongedUnaffectedUnaffectedUnaffected
Liver failure, end-stageProlongedProlongedProlongedDecreased
UremiaUnaffectedUnaffectedProlongedUnaffected
Congenital afibrinogenemiaProlongedProlongedProlongedUnaffected
Factor V deficiencyProlongedProlongedUnaffectedUnaffected
Factor X deficiency as seen in amyloid purpuraProlongedProlongedUnaffectedUnaffected
Glanzmann's thrombastheniaUnaffectedUnaffectedProlongedUnaffected
Bernard-Soulier syndromeUnaffectedUnaffectedProlongedDecreased or unaffected
Factor XII deficiencyUnaffectedProlongedUnaffectedUnaffected
C1INH deficiencyUnaffectedShortenedUnaffectedUnaffected

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