Von Willebrand disease
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Von Willebrand disease is a lifelong bleeding disorder in which your blood doesn’t clot well. Most people with the disease are born with it, though its warning signs may not show up for years. Some people may suspect they have a bleeding disorder when they have heavy bleeding after a dental procedure or, for women, during a menstrual period.
Most people with this condition inherited it from a parent. They have a faulty gene that causes problems with a protein important to the blood-clotting process.
Von Willebrand disease can’t be cured. But with good treatment and self-care, most people with this disease can lead active lives.
Many people with von Willebrand disease don’t know it because the signs are mild or absent. The most common sign of the condition is abnormal bleeding. The severity of the bleeding varies from one person to another.
If you have von Willebrand disease, you might experience:
Signs and symptoms of a heavy period that may indicate von Willebrand disease include:
Contact your doctor if you’re experiencing long or hard-to-stop bleeding.
The usual cause of von Willebrand disease is an inherited abnormal gene that controls von Willebrand factor, a protein that plays a key role in blood-clotting. When you have low levels of this protein or it doesn’t work as it should, small blood cells called platelets cannot stick together properly, nor can they attach themselves normally to the blood vessel walls when an injury has occurred. The result is interference with the clotting process, and, sometimes, uncontrolled bleeding.
Von Willebrand factor carries an additional substance, called factor VIII, that helps stimulate clotting. Many people with von Willebrand disease also have low levels of factor VIII. This is also one of the substances involved in another inherited clotting disorder called hemophilia. But unlike hemophilia, which mainly affects males, von Willebrand disease affects males and females and is usually milder.
Rarely, von Willebrand disease can develop later in life in people who didn’t inherit an abnormal gene from a parent. This is known as acquired von Willebrand disease, and it’s likely caused by another medical condition.
Von Willebrand disease has several types:
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A person with an autosomal dominant disorder — in this case, the father — has a 50 percent chance of having an affected child with one mutated gene (dominant gene) and a 50 percent chance of having an unaffected child with two normal genes (recessive genes).
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. With each pregnancy, two carriers have a 25 percent chance of having an unaffected child with two normal genes (left), a 50 percent chance of having an unaffected child who is also a carrier (middle), and a 25 percent chance of having an affected child with two recessive genes (right).
The main risk factor for von Willebrand disease is having a family history of it. A parent can pass the abnormal gene for the disease to his or her child.
Most cases are “autosomal dominant inherited” disorders, which means you only need an abnormal gene from one parent to be affected. If you have the gene for von Willebrand disease, you have a 50 percent chance of transmitting this gene to your offspring.
The most severe form of the condition (type 3) is “autosomal recessive,” which means both of your parents have to pass an abnormal gene to you.
Complications of von Willebrand disease may include:
Because von Willebrand disease is usually an inherited disorder, consider having genetic counseling if you have a family history of this condition and you’re planning to have children. If you carry the defective gene for von Willebrand disease, you can pass it on to your offspring, even if you don’t have symptoms.
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Von Willebrand disease
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