congenital afibrinogenemia

Introduction

A lack of fibrinogen in plasma.

Epidemiology

rare

Genetics

• mutation in one of 3 fibrinogen loci
• autosomal recessive

Laboratory

defective platelet aggregation

Complications

bleeding

Management

• fibrinogen concentrate (RiaSTAP) FDA-approved in 2009

More general terms

• afibrinogenemia
• genetic disease of the blood/bone marrow
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/202400