Von willebrand disease: symptoms, causes and treatment

Definition

What is Von Willebrand's disease?

Von Willebrand's disease is a congenital blood disorder that makes it difficult for blood to clot. People who have this condition have a deficiency in a blood clotting protein called von Willebrand factor.

The function of the Von Willebrand factor is to help the blood clot when there is bleeding. However, people with this disease have Von Willebrand's factor that is too little or doesn't work normally.

Generally, this disease is inherited from one or both parents with the same disease. However, in most cases, the symptoms will not appear until several years later.

How common is this disease?

Von Willebrand is one of the most common blood disorders when compared to other types of blood disorders. According to the CDC website, it is estimated that this disease is present in 1% of the total general population.

The incidence rate in male and female patients does not show much difference. However, usually female patients will be more severely affected by this disease because of bleeding that occurs during menstruation and childbirth.

In 2012-2016, more than 14,600 people underwent treatment for this disease, and about 2/3 of them were girls and women.

Type

What are the different types of Von Willebrand's disease?

This disease is divided into 3 types, depending on the severity of the symptoms. Here are the divisions:

• Type 1
  Von Willebrand's disease type 1 has the lightest severity. The incidence rate is among the highest, which is about 70-80% of all cases of this disease. People with this condition have low levels of Von Willebrand factor in their blood. The most common symptoms are light bleeding, such as nosebleeds, bruises, and excessive menstrual bleeding in women.
• Type 2
  Type 2 is found in 20% of cases of this disease. Usually, the clotting factors in the blood are in the normal range, but may not work as they should. Some type 2 patients are at risk of having a decreased level of platelets in the blood (thrombocytopenia). In addition, the patient will experience more severe bleeding after undergoing the surgical procedure.
• Type 3
  Type 3 is the most severe form of Von Willebrand's disease. The incidence is less common, which is only about 5% of all cases of this disease. In type 3, patients have very little Von Willebrand clotting factor in their blood, even if they are not present. The patient may experience symptoms of heavy bleeding, bleeding in the joints and muscles, muscle damage, and frequent bruising.

Signs and symptoms

What are the symptoms of Von Willebrand's disease?

Most people with this disease experience mild symptoms, even if they are almost nonexistent. However, the appearance of symptoms will certainly depend on the type of disease he is suffering from.

The following are common symptoms of Von Willebrand's disease:

• Excessive bleeding after injury, surgery, or tooth extraction
• Nosebleeds that don't stop in 10 minutes
• Heavy bleeding during menstruation
• Blood appears when urinating or defecating
• It's easier to have bruises, which are sometimes accompanied by bumps
• Symptoms of anemia, such as fatigue and shortness of breath

If you experience the symptoms mentioned above, do not delay the time to see a doctor or the nearest health service.

Causes & risk factors

What causes Von Willebrand's disease?

A common cause of this condition is a mutation or damage to the gene that controls Von Willebrand's clotting factor. These mutated genes are usually inherited from parents who carry the same gene. In other words, Von Willebrand's disease is caused by heredity.

Human blood has various types of clotting factors which play a role in clotting blood when there is bleeding. The purpose of this blood clotting process is so that your body doesn't lose too much blood when injured.

If you have low levels of clotting factor, or the clotting factor is not working normally, the blood may not clot or clot properly when bleeding occurs. As a result, the blood flows longer and the wound becomes harder to heal.

Many people with Von Willebrand's disease also lack blood clotting factor VIII, another protein that plays a role in the blood clotting process.

Low blood clotting factor VIII is usually associated with another blood disorder, namely hemophilia. However, in contrast to hemophilia which is more common in men, the chances of men and women getting the disease are the same.

Diagnosis and treatment

How do doctors diagnose this disease?

Von Willebrand disease of mild severity, such as type 1, can be more difficult to diagnose. The reason is, the symptoms may be similar to regular bleeding, the sufferer may not even feel anything strange when experiencing bleeding.

However, if the doctor suspects a bleeding disorder, you will be referred to a doctor who specializes in blood disorders (hematologist).

Some of the tests you may undergo include:

• Von Willebrand factor antigen : This test will measure your blood clotting factor levels by checking for certain proteins.
• Von Willebrand factor activity : this test will check how well your clotting factors are working.
• Factor VIII clotting activity : This test will check the performance and amount of blood clotting factor VIII.

How is Von Willebrand's disease treated?

Until now, there is no treatment that can cure this disease completely. The existing treatment aims to reduce the symptoms of heavy bleeding and improve the patient's quality of life.

The type of treatment will depend on the severity of your Von Willebrand disease. The following are generally recommended treatment options:

• Desmopressin: the drug desmopressin is a synthetic hormone that helps the body produce more Von Willebrand factor into the blood.
• Blood clotting factor replacement therapy: You will receive an IV containing a concentration of Von Willebrand factor to flow into your blood.
• Oral contraceptives or birth control pills: the goal of giving birth control pills is to control excessive bleeding during menstruation.
• Antifibrinolytic drugs: drugs such as aminocaproic acid and tranexamic acid can help slow down the process of breaking down previously formed clots so that bleeding can stop.

If you have any questions, please consult with your doctor to find the best solution for your condition.