Plasminogen Activator Inhibitor Type 1 Deficiency

Differential Diagnosis

Due to the rarity of the disease and the difficulty in accurately diagnosing PAI-1 deficiency, common bleeding disorders such as Von Willebrand disease, platelet function defects, and other rare disorders such as factor XIII and alpha-2 antiplasmin deficiency must be considered and ruled out prior to testing for PAI-1 deficiency.

Delayed bleeding is seen with PAI-1 deficiency but can also be seen with alpha-2 antiplasmin and FXIII deficiencies. Although recurrent miscarriage may be indicative of PAI-1 deficiency, it is also a common feature of disorders such as afibrinogenemia and congenital factor XIII deficiency; however, spontaneous miscarriage occurs much earlier (at ~7-8 weeks gestation) with these other rare disorders.70-72