Patients with homozygous alpha 2-antiplasmin deficiency can present early in childhood with bleeding from the umbilical cord and have a lifelong bleeding tendency.7
The bleeding manifestations resemble those of a patient with congenital hemophilia and may include the following:
Prolonged bleeding has been reported after tonsillectomy, adenoidectomy and dental extraction. Spontaneous hemothorax, hematuria, epistaxis and muscle hematomas also have been described in affected individuals. Many patients with unusual intramedullary hemorrhage into the diaphysis of long bones have been described, occurring either spontaneously or with trauma.10
Heterozygous alpha 2-antiplasmin deficiency may be associated with milder bleeding episodes and most patients may be asymptomatic. Prolonged bleeding may occur following dental or surgical procedures. Bleeding symptoms may sometimes appear with advancing age, as a result of falling levels of alpha 2-antiplasmin.11
Coexisting common disorders like von Willebrand disease or Factor V Leiden may modify the bleeding phenotype and account for the variable clinical expression seen.
Bleeding with miscarriage, placental abruption and postpartum hemorrhage in women following caesarean delivery and during pregnancy have been described.10,12 Menorrhagia has been reported too.
Individuals with alpha 2-antiplasmin deficiency experience bleeding episodes because of the premature dissolution of the hemostatic plug before repair of tissues and vessels. Bleeding may be delayed after trauma or invasive procedures. Individuals who have severe liver disease and decreased plasma levels may experience acquired deficiency of alpha 2-antiplasmin.7 Decreased levels of alpha 2-antiplasmin have also been reported in patients with renal disease, amyloidosis and disseminated intravascular coagulation, as well as in patients undergoing thrombolytic therapy.13
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.
