Plasminogen Deficiency

Pattern of Inheritance

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.