Although congenital deficiency of alpha 2-antiplasmin is a rare disorder, it is important to rule out this disease when evaluating patients with an unknown bleeding disorder. Some of the manifestations of alpha 2-antiplasmin are also associated with other conditions, as follows:
1. Bleeding in the bones similar to the intramedullary hematomas of alpha 2-antiplasmin deficiency has also been described in afibrinogenemia.
2. Other disorders resulting in premature fibrinolysis like Plasminogen Activator Inhibitor-1 (PAI-1) deficiency.
3. Due to alpha 2-antiplasmin’s strong interaction with FXIII, many presenting symptoms are similar to those of FXIII deficiency.
4. Acquired alpha 2-antiplasmin deficiency which may be seen with liver disease (decreased synthesis), disseminated intravascular coagulation (increased consumption), and nephrotic syndrome (urinary loss) or during thrombolytic therapy.
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.
