Congenital afibrinogenemia
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| 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]
[edit] Diagnostic tests
When a problem of fibrinogen is suspected, the following tests can be ordered:
PT
PTT
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 | normal or mildly prolonged | unaffected | unaffected |
| Disseminated intravascular coagulation | prolonged | prolonged | prolonged | decreased |
| von Willebrand disease | unaffected | prolonged | prolonged | unaffected |
| Hemophilia | unaffected | prolonged | unaffected | 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 |
[edit] References
- ^ 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.
- ^ National Hemophilia foundation http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=184&contentid=44&rptname=bleeding
- ^ Brick Wendy,MD, Burgess Rusell,MD, Dysfibrogenemia http://emedicine.medscape.com/article/199723-diagnosis
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