Plasminogen Deficiency

Pattern of Inheritance

As stated earlier, Type I plasminogen deficiency is an autosomal recessive condition, however the penetrance does vary, even within families.13,14 In fact, the genetic mutation does not necessarily predict clinical phenotype.14 For example, homozygosity for the W597C mutation in one family led to one patient having ligneous periodontitis, another sibling having ligneous conjunctivitis, and the third being asymptomatic. 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 (http://www.plasminogenregistry.org/).20 Importantly, individuals and care providers within this database will be notified of potential new studies and therapeutic interventions.