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Congenital alpha2-antiplasmin deficiency

ORPHA:79· ICD-10 D68.8

Definition

A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Childhood