The majority of reports detailing individuals with bleeding symptoms associated with PAI-1 deficiency document an autosomal recessive pattern of inheritance. Individuals heterozygous for PAI-1 mutations, with the exception of the compound heterozygote identified by Zhang et al.,59 do not present with bleeding symptoms.20,49
Genetic testing: In the U.S., the University of Michigan specifically tests for the dinucleotide insertion mutation located on exon 4; the mutation known to be present in the Old Order Amish community.52,53 Within this Amish population, samples from suspected cases, individuals known to be at risk for PAI-deficiency, or carriers of the mutation are screened.
In Europe, there are ten, accredited laboratories that report performing molecular diagnostic testing for congenital PAI-1 deficiency. They are located in the Czech Republic, Germany, Greece and Switzerland. For more specific contact information for each location, please visit www.orpha.net.
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.
