Faktoripuudused

Faktoripuudused, often translated as factor deficiencies, refer to a group of inherited bleeding disorders caused by a lack of or insufficient production of specific blood clotting factors. These factors are proteins essential for the blood to clot properly, preventing excessive bleeding. The most common types of factor deficiencies are hemophilia A and hemophilia B, which involve deficiencies in clotting factor VIII and clotting factor IX, respectively. Von Willebrand disease, while not strictly a deficiency of a single clotting factor, is also considered a bleeding disorder related to a problem with a protein involved in clotting.

Individuals with factor deficiencies can experience a range of symptoms, from mild to severe. These may include prolonged bleeding after injuries, spontaneous bruising, and bleeding into joints and muscles, which can cause pain and joint damage. In more severe cases, internal bleeding, such as in the brain, can be life-threatening. The severity of the condition typically depends on the amount of functional clotting factor present.

Diagnosis of factor deficiencies is usually made through blood tests that measure the levels and activity of specific clotting factors. Genetic testing can also be used to identify the specific mutation responsible for the deficiency. Treatment aims to replace the missing or deficient clotting factor, often through infusions of clotting factor concentrates derived from human plasma or produced through recombinant DNA technology. Managing factor deficiencies involves a multidisciplinary approach, including hematologists, nurses, and physical therapists, to prevent and treat bleeding episodes and manage long-term complications.