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
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
