What are Inherited bleeding disorders?
Inherited bleeding disorders are a family of diseases in which blood 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. These conditions are usually inherited genetically from parents but also appear spontaneously, and in rare cases can even be acquired.
In people with bleeding disorders, the blood clotting process doesn’t work properly. As a result, people with bleeding disorders can bleed for longer than normal, and some may experience spontaneous bleeding into joints, muscles, or other parts of their bodies. The main risk for children and adults with these disorders is internal bleeding, mainly into muscles, joints, or vital organs.
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.
What is Hemophilia?
Hemophilia is a bleeding disorder that affects approximately 1 in 10,000 people. People with hemophilia do not have enough clotting factor VIII or IX in their blood. As a result, they can bleed for longer than normal. Carriers of Hemophilia can also experience similar bleeding patterns and require treatment.
What is von Willebrand disease (VWD)?
The most common bleeding disorder is von Willebrand disease (VWD), with as many as 1 in 100 people affected. People with VWD have a problem with a protein in their blood called von Willebrand factor (VWF) that helps control bleeding. People with VWD do not have enough VWF, or it does not work the way it should. It takes longer for blood to clot and for bleeding to stop. There are three main types of VWD (1, 2, and 3).
Within each type, the disorder can be mild, moderate, or severe. With all forms of VWD, there can be bleeding problems. Most cases of VWD are undiagnosed and people with VWD may not know that they have the disorder because their bleeding symptoms are mild or due to a lack of knowledge about VWD in both healthcare workers and the general public. While VWD affects men and women equally, women are more identify and experience bleeding symptoms./p>
What are Rare Clotting Factor Deficiencies and Inherited Platelet Disorders?
Rare clotting factor deficiencies are disorders in which one of several clotting factors is missing or not working properly. Less is known about these disorders because they are diagnosed so rarely. Many have only been discovered in the last 40 years.
Inherited platelet disorders are conditions in which platelets don’t work the way they should, resulting in a tendency to bleed or bruise.