Evaluation and diagnosis of plasminogen deficiency (PLGD)

PLGD is autosomal recessive; clinical disease typically requires a pathogenic variant in both alleles of the PLG gene (one from each parent). Penetrance is variable; disease severity can differ in individuals with the same genotype, even within the same kindred. Diagnosis is often delayed for months to years. Genetic testing can be done but is not required. Results of genetic testing do not predict disease severity or the need for treatment.