Inherited bleeding disorders are a family of diseases in which blood clotting proteins or platelets that help the blood to clot are missing or do not function properly, resulting in prolonged bleeding. These conditions include hemophilia A and B, von Willebrand disease, rare factor deficiencies (factors I, II, V, VII, X, XI, XIII), and platelet function disorders. While surface cuts and abrasions can create minor problems, the main risk for children and adults with these disorders is internal bleeding, mainly into muscles and joints or vital organs, which can cause death.
For women, there are additional risks: heavy menstrual periods, which in the absence of proper diagnosis can lead to reduced quality of life, unnecessary hysterectomies, and the risk of hemorrhaging during childbirth. For all people with inherited bleeding disorders, prolonged bleeding after injury or surgery can be life-threatening.
The inherited bleeding disorders are:
- Hemophilia A and B
- von Willebrand disease
- Rare factor deficiencies
- Platelet function disorders
HEMOPHILIA A AND B
Both hemophilia A and B are very rare disorders. Hemophilia A affects fewer than 1 in 10,000 people. Hemophilia B is even less common, affecting approximately 1 in 50,000 people. Hemophilia is a hereditary condition. This means that it is passed on from mother to child at the time of conception.
The blood of a person with hemophilia does not clot normally. He does not bleed more profusely or more quickly than other people; however, he bleeds for a longer time.
Many people believe that people with hemophilia bleed a lot from minor cuts. This is a myth. External wounds are usually not serious. Far more important is internal bleeding (hemorrhaging). These hemorrhages are in joints, especially knees, ankles, and elbows; and into tissues and muscles. When bleeding occurs in a vital organ, especially the brain, their life is in danger.
If doctors suspect hemophilia A or B in a young child, they will do some simple lab tests. They will take a blood sample, and measure the amount of factor VIII and factor IX in the blood.
- Factor VIII is the protein that is lacking in hemophilia A.
- Factor IX is the protein that is lacking in hemophilia B.
The tests will show:
- if the person has a bleeding disorder
- what kind of bleeding disorder does the person have
- how severe the bleeding disorder is.
In the context of hemophilia, the number of women seeking PND in the developed world seems to be decreasing with the successful use of prophylactic treatment. Prophylactic and on-demand home care has improved the quality of life for young people with hemophilia and their families, allowing most to grow up without severe joint disease or other complications.
All of the medical services needed by a person with an inherited bleeding disorder and his/her family are provided at a comprehensive care clinic. The basic treatment to stop or prevent bleeding in people with hemophilia A and B is factor replacement therapy. This is the infusion (injection into the bloodstream) of factor VIII and IX concentrates to prevent or control bleeding. For people with hemophilia A, a new treatment has recently become available, a monoclonal antibody that mimics the function of factor VIII in the clotting process. This treatment is injected subcutaneously.
von Willebrand disease (VWD) is the most common bleeding disorder that people have.
There are various types of VWD. (See Types of von Willebrand disease) All the different types are caused by a problem with the von Willebrand factor (VWF). This is a protein in the blood that is necessary for proper blood coagulation or clotting. When there is not enough VWF in the blood, or when it does not work the way it should, the blood takes longer to clot.
RARE FACTOR DEFICIENCIES
People with rare factor deficiencies have low levels of a specific blood protein, either factor I, II, V, VII, X, XI, or XIII. Like hemophilia and VWD, these are genetic conditions for which there are treatments but no cures.
PLATELET FUNCTION DISORDERS
There are many different kinds of platelet function disorders. They can be divided into two categories:
- hereditary disorders (meaning that they run in the family)
- acquired disorders (meaning they are caused by other diseases or the use of medications.
In platelet function disorders, a person’s blood platelets do not work properly. The result is that blood does not clot the way it should.
Source: Canadian Hemophilia Society (https://www.hemophilia.ca/