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). There are two types:

• Type I – PLGD type I is due to reduced protein production (quantitative deficiency, also called hypoplasminogenemia). Plasminogen protein levels and functional activity are both reduced.
• Type II – PLGD type II is due to a dysfunctional protein (qualitative deficiency, also called dysplasminogenemia). Plasminogen protein levels may be normal but activity is reduced.

Type II appears to be more common than type I.

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.