Alpha-2-plasmin inhibitor deficiency
Alpha-2-plasmin inhibitor deficiency
Definition
Congenital alpha2 antiplasmin deficiency is 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). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.
Also known as alpha-2-plasmin inhibitor deficiency, plasmin inhibitor deficiency — per MONDO