Type I Plasminogen Deficiency.
About type I Plasminogen Deficiency
Plasminogen is a protein in the blood that helps control the formation and breakdown of blood clots. Type I plasminogen deficiency is a disorder caused by a genetic defect that leads to reduced activity of the protein plasminogen in the blood. It is an autosomal recessive disorder, which means that both copies of a gene must be mutated in order for the disorder to occur.
Symptoms of Type I plasminogen deficiency
Individuals with type I plasminogen deficiency may experience bleeding, including nosebleeds, bruising, and prolonged bleeding after surgery or injury. In some cases, individuals may have blood clots in the legs, or deep venous thrombosis.
Diagnosing Type I plasminogen deficiency
The diagnosis of type I plasminogen deficiency is made with a combination of laboratory tests, including:
- Plasminogen activity test
- Genetic testing
- Platelet aggregation test
Management of Type I plasminogen deficiency
Treatment for type I plasminogen deficiency depends on the individual’s symptoms and the severity of the deficiency. The primary goal of treatment is to reduce the risk of bleeding and to improve clotting. Treatment may include:
- Replacement therapy with a plasminogen concentrate
- Immune therapy, which can help reduce the risk of bleeding in some individuals
- Anticoagulant therapy to prevent blood clots
Outlook for Type I plasminogen deficiency
The outlook for individuals with type I plasminogen deficiency depends on the severity of the deficiency and the effectiveness of the treatment. With appropriate treatment, most individuals will have a normal quality of life. However, some individuals may experience recurrent bleeding episodes or chronic blood clots.