/alpha-2-plasmin inhibitor deficiency

alpha-2-plasmin inhibitor deficiency

Rare Disease

MONDO:0009883

Also Known As

alpha-2-plasmin inhibitor deficiencyantiplasmin defiencyplasmin inhibitor deficiencyanti-plasmin deficiency, congenitalantiplasmin deficiencyantiplasmin deficiency, congenitalcongenital alpha2-antiplasmin 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.