α2 Antiplasmin Deficiency Case Report and Literature Review

α2-antiplasmin (α2-AP) deficiency is a rare but serious hemorrhagic disorder caused by excessive fibrinolysis due to insufficient inhibition of plasmin. It can be congenital, resulting from mutations in the SERPINF2 gene, or acquired, often associated with liver disease, malignancies, or fibrinolytic therapy. Clinically, it manifests as spontaneous or prolonged bleeding, including postoperative hemorrhages, gastrointestinal bleeding, and intracranial hemorrhages, often with normal standard coagulation tests, making diagnosis challenging. The gold standard for diagnosis includes specific α2-antiplasmin assays and genetic testing for SERPINF2 mutations. Treatment involves fresh frozen plasma (FFP) and tranexamic acid, with recombinant Factor VII (rFVIIa) as an alternative for severe cases. Recent advances in gene therapy offer promising future perspectives. Early recognition and appropriate management are critical to prevent life-threatening bleeding complications.