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.

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