Inherited coagulation disorders

What is it?

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.

How is it diagnosed?

Accurate collection of a personal and family history by a specialist can eliminate the suspicion of hemorrhagic diathesis or hereditary thrombophilia. Then the diagnosis is made by conducting special laboratory tests to identify individual defects.

How is it treated?

In the case of haemorrhagic diathesis, plasma or recombinant concentrates of the individual coagulation factors are available that can be infused on the occasion of haemorrhagic manifestations or prophylactically to prevent their occurrence. For less severe forms, drugs such as DDAVP and antifibrinolytics can also be used as needed. In the case of thrombophilia, it is possible to establish a temporary anticoagulant prophylaxis on the occasion of conditions of increased thrombotic risk (prolonged immobilization, surgery). An anticoagulant therapy, the duration of which must be reassessed over time, is reserved only for cases that in association with the thrombophilic state have suffered thrombotic episodes.

Where do we treat it?

Within the San Donato Group, you can find Inherited coagulation disorders specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.