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congenital afibrinogenemia
A lack of fibrinogen in plasma.
Epidemiology: rare
Genetics:
1) mutation in one of 3 fibrinogen loci
2) autosomal recessive
Laboratory: defective platelet aggregation
Complications: bleeding
Management:
- fibrinogen concentrate (RiaSTAP) FDA-approved in 2009
General
afibrinogenemia
genetic disease of the blood/bone marrow
congenital anomaly (birth defect)
Database Correlations
OMIM 202400
References
Stedman's Medical Dictionary 27th ed, Williams &
Wilkins, Baltimore, 1999.