Bleeding disorders are characterised by deficient blood clotting, which results in an increased bleeding tendency, and commonly a prolongation of bleeding. Hereditary bleeding disorders are caused by genetic defects (mutations) that affect coagulation factors. Coagulation factors are proteins that assist in blood clotting and stopping bleeding. Bleeding disorders are not contagious.
Several hereditary bleeding disorders are known. The most common are:
- von Willebrand disease (VWD), which is caused by the deficiency or malfunction of von Willebrand factor (VWF)
- Type A haemophilia, the deficiency of clotting factor eight (VIII)
- Type B haemophilia, the deficiency of clotting factor nine (IX)
Due to the mode of inheritance, haemophilia occurs mainly in men and VWD in both men and women. Severe haemophilia is often revealed during early childhood, while VWD is typically found during an operation, childbirth or when investigating heavy menstruation. In haemophilia, a new genetic defect can also occur in a person with no family history of bleeding disorders.
In addition to haemophilia and VWD, hereditary bleeding disorders include the rare deficiencies of other coagulation factors (II, V, VII, X, XI, XIII) and anomalies of platelets. Bleeding disorder severity varies from mild to moderate and severe depending on the quantity and activity of the coagulation factor affected by the specific genetic defect.
A tendency for increased bleeding can also be caused by medication or be related to another illness, such as hepatic or renal insufficiency or cancer. It is recommended to always seek treatment and diagnosis when experiencing unusual bleeding. Bleeding disorders are diagnosed in specialised healthcare based on clinical symptoms, family history and specialised laboratory tests.
Symptoms and treatment
In bleeding disorders blood clotting is not happening normally. Typical symptoms are:
- sudden bleeding with no clear cause or after even a minor injury
- prolongation or resumption of bleeding (for example after having a cut, injury or operation)
- recurrent bleeding
- generalised tendency to bleed, bleeding in many different places (bruises on the skin, mucosal bleeding such as heavy menstruation, internal bleeding in joints, muscles and soft tissue)
Bleeding is prevented and treated by administering the deficient coagulation factor intravenously, as well as with other modes of support. Treatment and monitoring take place in central or university hospitals in a unit specialised in coagulation disorders. The patient is given a diagnosis and treatment card. Bleeding is taken into account during surgery or even a minor operation, such as removing a tooth, and administration of coagulation factor replacement therapy is planned beforehand. Additionally, childbirth-related bleeding requires special measures. In case of an emergency, a doctor specialised in coagulation disorders should be consulted.
More info on hereditary bleeding disorders can be found in our guide.