Indiana Hemophilia

1 month ago | onlinelibrary.wiley.com | Amy Shapiro |Indiana Hemophilia |Heather McDaniel |Robert Decker

1 Introduction Type 1 plasminogen deficiency (PLGD-1), also known as hypoplasminogenaemia, is an ultra-rare autosomal recessive disorder with an estimated prevalence of symptomatic cases of approximately 1.6 per million individuals [1]. PLGD-1 is caused by pathogenic variants in the PLG gene, which encodes plasminogen [2], a key regulator of fibrinolysis, inflammation, wound healing and tissue remodelling [3, 4]. Plasminogen circulates in an inactive zymogen form.