Alpha-2 antiplasmin deficiency: a rare fibrinolytic disorder identified after decades of diagnostic delay.
Akshay Mathavan, Akash Mathavan, Urszula Krekora et al.
✦ AI-curated · Sources linked
Case in brief
A woman presented with decades of postoperative bleeding and transfusion dependence, initially misdiagnosed with von Willebrand disease. Comprehensive evaluation revealed normal coagulation studies and platelet function, but low alpha-2 antiplasmin (α2AP) activity. Genetic testing identified a homozygous SERPINF2 variant, confirming congenital α2AP deficiency. The patient’s bleeding was managed following the diagnosis.
Diagnostic / clinical pearl
Clinicians should consider alpha-2 antiplasmin deficiency in patients with unexplained or delayed bleeding, as standard hemostatic panels may not detect this condition.
Why it matters
This case emphasizes the need for functional activity assays or genetic analysis in patients with suspected fibrinolytic disorders to avoid diagnostic delays.