hyytymistekijäpuutoksia

Hyytymistekijäpuutokset, known in English as coagulation factor deficiencies, are a group of inherited bleeding disorders caused by a lack of one or more specific proteins in the blood that are essential for normal blood clotting. These proteins are called coagulation factors. When a deficiency exists, the blood clotting process is impaired, leading to prolonged bleeding after injury or surgery, spontaneous bruising, and bleeding into joints and muscles.

The most common and well-known of these deficiencies is hemophilia, which can be further divided into hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). Other rarer deficiencies include factor VII deficiency, factor XI deficiency, and factor XIII deficiency, as well as deficiencies in von Willebrand factor, which plays a role in both platelet adhesion and factor VIII activity.

The severity of symptoms depends on the degree of the deficiency. Mild cases may only be apparent after significant trauma or surgery, while severe cases can result in spontaneous and life-threatening bleeding episodes. Diagnosis is made through blood tests that measure the levels of specific clotting factors. Treatment typically involves replacing the deficient clotting factor, either through infusions of concentrated factor products or, in some cases, through medications that stimulate the body to produce more of the deficient factor. Gene therapy is also an emerging treatment option for some of these conditions. Genetic counseling is important for affected individuals and their families due to the inherited nature of these disorders.