DysPA

DysPA is a genetic disorder that affects the production of proteaseActivator 1 (PA1), a protein required for the activation of proteases involved in the blood clotting process. In individuals with DysPA, the mutation in the SERPINA1 gene results in the production of a non-functional PA1 protein. This leads to inadequate protease activation, causing excessive bleeding and bleeding disorders.

DysPA is also known as Alpha-1-antitrypsin deficiency with bleeder disease or Dysfibrinogenemia with bleeding tendency due to defective plasminogen and/or other procoagulant proteins like activated factor VII precursor. The disorder was first described in 1962. Individuals with DysPA are more likely to suffer from various bleeding disorders, including easy bruising, heavy menstrual bleeding, and delayed clotting.

DysPA can be inherited in an autosomal recessive manner. This means that a person must inherit two mutated copies of the SERPINA1 gene (one from each parent) to be affected by the disorder. Carriers of the mutated gene, who inherit one normal and one mutated copy, are generally asymptomatic but can pass the mutated gene to their offspring.

Diagnosis of DysPA is typically based on clinical symptoms, a family history of bleeding disorders, and laboratory tests that confirm the presence of a mutated SERPINA1 gene. There is no cure for DysPA, but treatment may involve administration of antifibrinolytic agents and/or blood transfusions to manage excessive bleeding episodes.