Inherited coagulation disorders

Hereditary blood clotting defects can include both bleeding diathesis and thrombophilia. This is due to the fact that in addition to the physiological mechanisms that lead to the formation of a clot, there are others that limit its spread and control its dissolution (fibrinolysis). Ailing people may suffer from manifestations of spontaneous bleeding or after minor trauma to the skin (bruises, petechiae), mucous membranes (rhinitis and gingivorrhagia, hematuria, melena, minus metrorrhagia), muscles (hematomas), joints (hemarthrosis), brain (hemorrhage into the brain). Or, in the case of thrombophilia, they may present with spontaneous thrombotic episodes at an early age, usually at the venous level (deep vein thrombosis of the extremities, venous thrombosis in unusual locations, pulmonary embolism), often with a tendency to relapse. The most serious forms can cause thrombosis of the microcirculation of various organs, even in the neonatal period (purpura fulminans neonatalis). The condition of hereditary thrombophilia can also be associated with multiple abortions.

Hereditary coagulation defects, which most often carry an increased risk of bleeding:

• von Willebrand factor, which usually leads to a decrease in circulating levels of factor VIII, but can also be qualitative rather than quantitative in nature;
• factor VIII (hemophilia A);
• factor IX (hemophilia B).

Deficiencies - quantitative and qualitative - of factor XI (hemophilia C), factor VII, V, X, XIII, II, fibrinogen and antiplasmin are less common. There may also be a combination of deficiencies of several factors, for example, in the case of deficiency of factors V and VIII. The defect is most often transmitted by an autosomal dominant mechanism (usually one parent transmits the disease to 50% of children), with the exception of hemophilia A and B, diseases associated with the X chromosome that affect only males, while females are healthy carriers or, at best, suffer from mild menorrhagia during childbearing years.