Type I plasminogen deficiency is an autosomal recessive condition with variable penetrance, even within families.15,16 As previously stated, the genetic mutation does not necessarily predict clinical phenotype.16 It appears that most type II deficiencies are also autosomal recessive.
At this time, genetic testing is performed in a research setting and is not widely clinically available. Please see the Research section for details of ongoing clinical studies, including those designed to investigate the natural history of the disease.
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.
