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. A plasminogen registry was developed to collect information on these rare patients ideally to increase understanding of the number of affected individuals, range of clinical symptoms and variability over time and interventions utilized.22 A new international retrospective and prospective study will be launched in 2018 to collect information on 100 affected individuals as well as their family members with the aim of improving our understanding of this disease including those factors which impact clinical phenotype. This study will be a disease specific extension of the prospective Rare Bleeding Disorder Database.