Plasminogen Activator Inhibitor Type 1 Deficiency
Pattern of Inheritance
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.Next