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Вроджений дефіцит альфа2-антиплазміну

ORPHA:79· ICD-10 D68.8· Congenital alpha2-antiplasmin deficiency

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Childhood