Bleeding disorders are rare diseases in which blood clotting is disrupted. If the blood does not clot properly, there is an increased risk of bleeding after injury or surgery, and in some cases spontaneous bleeding.
Coagulation factors are proteins produced by the body that bind to platelets to form a thrombus at the site of tissue damage, stopping the bleeding. Any problem that affects the number and/or function of clotting factors or platelets can lead to a bleeding disorder.
Bleeding disorders can be congenital or acquired, which means that the disease develops over a lifetime. Acquired bleeding disorders are more common than congenital disorders.
The main symptoms are bruising of the skin or subcutaneous tissue, heavy menstrual bleeding, frequent nosebleeds. In case of severe illness spontaneous bleeding into joints and muscles and bleeding of internal organs.
Treatment for bleeding disorders depends on the disease and its severity. Treatment may include factor replacement therapy or use of drugs that reduce bleeding. The treatment team for a patient with a bleeding disorder includes a hematologist, a hemophilia nurse, a rehabilitation physician, a physiotherapist, a gynecologist, a radiologist, an orthopedist, a dentist, a social worker, a mental health specialist, and so on.
Haemophilia is a rare bleeding disorder characterized by the partial or complete absence of a specific protein needed for blood clotting, called clotting factor. The factor deficiency is due to a change in the gene on the X chromosome.
There are mainly 2 types of disease: haemophilia A and haemophilia B. Additionally haemophilia C exists, but is very rare. Haemophilia A is a deficiency of factor VIII and subtype B is a deficiency of factor IX. Haemophilia A incidence is about 1: 10,000 per person, haemophilia B is 5-6 times less common.
Haemophilia is an X-linked, recessively inherited blood clotting disorder. The mutated gene is passed on to the children via the maternal X chromosome, which is why haemophilia occurs mainly in boys. Women with a defective gene are carriers of the gene, but they may also have (usually mild) symptoms of haemophilia. Severe haemophilia is also possible in girls, although it is much less common than in boys.
About 33% of cases are not a familial disease, but haemophilia is the result of a spontaneous gene change.
The disease is characterized by excessive bleeding such as increased bleeding following trauma or surgery, or spontaneous internal bleeding without trauma.
Depending on the level of coagulation factor in the body, the symptoms can vary greatly. The lower the factor level, the higher the risk of prolonged bleeding or spontaneous bleeding. The disease is divided into three subtypes of severity according to the value of the factor: mild, moderate and severe. The normal factor level is considered to be 50-150%. In mild haemophilia, the factor level in the body is> 5%. This is characterized by bleeding following major trauma or surgery. Spontaneous bleeding is rare. In moderate haemophilia, the factor level is 1-5%. Uncommonly, spontaneous bleeding may occur, but there is a tendency to bleed mainly after surgery or minor trauma.
With severe haemophilia, the factor level is <1%, with spontaneous bleeding mainly in the joints and muscles.
Von Willebrand’s disease
Von Willebrand’s disease is the most common bleeding disorder characterized by impaired or deficient function of the coagulation protein known as the von Willebrand factor in the body.
Von Willebrand factor is a clotting protein that helps platelets to stick to the wall of a blood vessel and to each other and is therefore needed to make a blood clot and stop bleeding. The factor also plays another important role in coagulation – to protect coagulation factor VIII from rapid degradation.
The disease is transmitted autosomally in both women and men. The incidence of the disease is 1: 10,000 per person.
The clinical course of VWT is usually milder than that of haemophilia. Women are often more affected by the disease due to heavy menstrual bleeding which can lead to iron deficiency.
Von Willebrand’s disease is divided into three subtypes according to the level of factor and activity in the body: type 1, type 2, type 3. Type 1 is the mildest and most common, and type 3 is the most severe and least common.
Early diagnosis of the disease allows you to live a normal active life. In mild forms of the disease, a person may not need treatment, but bleeding medicines such as aspirin and ibuprofen should be avoided.
In more severe cases, the disease is treated to increase the level of von Willebrand factor in the blood or replace the missing clotting factor. For people with von Willebrand’s disease it is important to consult a doctor before surgery, invasive dental procedures or childbirth.
Coagulation factor I (fibrinogen) deficiency
Fibrinogen is a clotting protein that is converted to fibrin during clotting. Fibrin is an important component in the formation of a thrombus above a blood vessel damage. Lack of fibrinogen in the body can cause bleeding. The disease affects both women and men.
Afibrinogenemia- complete absence of fibrinogen from the body.
Hypofibrinogenemia – The amount of fibrinogen in the body is reduced.
Dysfibrinogenemia – The amount of fibrinogen in the body is normal, but the function is impaired.
Hypodysfibrinogenemia – Decreased combined fibrinogen and impaired function.
Fibrinogen deficiency is divided into three degrees of severity according to factor activity:
Mild (fibrinogen> 1g / L): Patients are usually asymptomatic, but may experience bleeding following trauma and surgery and during pregnancy or childbirth.
Moderate (fibrinogen 0.1-1g / L): Mild spontaneous bleeding or bleeding may occur after trauma, surgery, and pregnancy or childbirth.
Severe (fibrinogen not detectable): Patients may experience spontaneous, severe and even life-threatening bleeding.
Other deficiencies of a specific coagulation factor (Factor II, V, X, VII deficiency) are very rare and are inherited by autosomal recessive pathways. The clinical picture of bleeding is very different.
Acquired coagulation disorders
Acquired coagulation disorders can occur as a result of various diseases or medications which stop the production of coagulation factors in the body or interfere with their function, leading to bleeding. In the case of acquired coagulation disorders, it is important to treat the triggering factor.