Purpose: Alpha 2-Antiplasmin (AP) deficiency is a rare congenital bleeding disorder that presents with normal screening tests for platelet function and clotting. We believe that this disorder is frequently overlooked, especially in women with unexplained bleeding.
Patients and methods: We report on two families and one single patient with heterozygous AP deficiency.
Results: All patients and most relatives with the defect had a mild bleeding tendency.
Conclusions: We suggest the incorporation of the AP assay in all patients who have a bleeding disorder with normal platelet studies and normal clotting profiles.