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Congenital fibrinogen deficiency

ORPHA:335· ICD-10 D68.2

Definition

A group of rare inherited coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be rarely combined (hypodysfibrinogenemia).

Prevalence
1-9 / 1 000 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
All ages