By Katherine Kozlowski, Medical Author and Contributor to Vein News and www.VeinsVeinsVens.com
Plasminogen activator inhibitor type 1 (PA1) is a protein in the body necessary for normal blood clotting.
PA1 deficiency is a rare blood disorder that, due to the early breakdown of blood clots, causes excessive or prolonged bleeding.
PA1 deficiency often presents as prolonged bleeding after an injury or medical procedure, delayed wound healing, long-lasting nosebleeds, easy bruising, joint bleeding, excessive bleeding in females during menstruation, pregnancy, or childbirth, or cardiac fibrosis. Dentists and oral surgeons have also noted increased bleeding events after dental work in patients with PA1 deficiency.
CAUSE: PA1 deficiency is caused by mutations in the SERPINE1 gene, and is typically autosomal recessive, meaning both parents have passed down the mutation. PA1 deficiency may be partial or complete, resulting in differing severity of symptoms. Patients with partial deficiency (those who still have some functional PA1) may not show symptoms until later in life or after physical trauma to the body, while a complete PA1 deficiency may be evident in infancy.
TREATMENT: Prolonged bleeding episodes, heavy menstrual bleeding, and bleeding during surgery or childbirth may be treated by intravenous antifibrinolytics. Antifibrinolytics slow down the breakdown of blood clots, preventing excessive blood loss. Infusion of fresh frozen plasma can be a useful treatment method for severe bleeding episodes.
Plasminogen activator inhibitor type 1 deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Plasminogen activator inhibitor type 1 deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . (2021). Retrieved 3 February 2021, from https://rarediseases.info.nih.gov/diseases/4381/plasminogen-activator-inhibitor-type-1-deficiency