Home Diseases Von Willebrand syndrome: definition, symptoms and therapy

Von Willebrand syndrome: definition, symptoms and therapy

by Josephine Andrews
Published: Last Updated on 281 views

Von Willebrand syndrome (VWS) is a bleeding disorder that is mostly inherited. In rare cases, other diseases or certain medications are the cause. Those affected form too little of the von Willebrand factor (VWF), which is important for hemostasis – or a defective form of the protein. Typical symptoms are heavy menstrual bleeding, gum and nosebleeds and bleeding after operations. Read more about diagnosis and treatment here!

ICD codes for this disease:

ICD codes are internationally valid codes for medical diagnoses. They can be found, for example, in doctor’s letters or on certificates of incapacity for work.

D68

quick overview

  • Description: Mostly inherited, rarely acquired bleeding disorder that leads to an increased tendency to bleed
  • Prognosis: With appropriate treatment, life expectancy is not affected.
  • Treatment: Treatable with medication, inherited form not curable
  • Symptoms: Bleeding, especially of the mucous membranes: heavy menstruation, nosebleeds , bleeding gums , bleeding after operations, iron deficiency
  • Prevention: information and education of the personal environment; carry an emergency ID card; Avoidance of certain medications
  • Diagnosis: based on symptoms, family history, blood tests
  • Causes: Mostly hereditary, rarely caused by other diseases or drugs

What is Von Willebrand Syndrome?

Von Willebrand syndrome (VWS) is the most common congenital bleeding disorder worldwide: about one in 1,000 people suffers from it. An older term for VWS is “Von Willebrand-Jürgens Syndrome”.

Those affected tend to bleed more. The reason is a clotting disorder. In rare cases, the disease is not inherited but is caused by other underlying diseases (e.g. heart defects, hypothyroidism ) or certain medications.

Whether and how much bleeding occurs depends on the type of disease. In some people, VWS is mild and develops little or no symptoms. Doctors usually diagnose women earlier than men because of menstrual bleeding or bleeding after childbirth . There are three types of VWS:

Types 1 to 3 of Von Willebrand syndrome

Doctors divide von Willebrand syndrome into three types. Knowing what form of the disease is involved is important for treatment. In some cases, however, von Willebrand syndrome cannot be clearly assigned to a type.

Von Willebrand syndrome type 1

In von Willebrand syndrome type 1, there is a deficiency of the so-called von Willebrand factor. Type 1 is the most common form and accounts for about 85 percent of all cases of von Willebrand syndrome.

In conjunction with other substances, the von Willebrand factor ensures that the blood platelets ( thrombocytes ) stick together, sticking together the injury or wound and thus stopping the bleeding. Its second task is to protect another important coagulation factor, known as Factor VIII, from being broken down by enzymes . Physicians count type 1 among the quantitative disorders of hemostasis.

Von Willebrand syndrome type 2

In von Willebrand syndrome type 2, the body produces a defective form of von Willebrand factor. As a result, he can only perform his task to a limited extent or not at all. Doctors refer to this as a qualitative disruption in hemostasis.

Von Willebrand syndrome type 3

The most severe form of von Willebrand syndrome is type 3. However, it is also the rarest: around one in a million people suffers from this form. The von Willebrand factor is completely absent here. Those affected have to replace the von Willebrand factor with a drug that takes over its function. The symptoms are also most pronounced here. Like type 1, type 3 is one of the quantitative disorders of hemostasis.

Origin of the name of the disease

The terms “Von Willebrand Syndrome” or “Von Willebrand-Jürgens Syndrome” go back to the discoverers of the disease. Finnish doctor Erik Adolf von Willebrand first described the condition in the 1920s. He recognized that, in contrast to hemophilia, von Willebrand syndrome also affected women. In the 1930s, the German doctor Rudolf Jürgens added further observations to the description of the disease, which is why the bleeding disorder is referred to in parts of the specialist literature as Von Willebrand-Jürgens syndrome.

What is the life expectancy in Von Willebrand syndrome?

The goal of therapy is to consistently prevent heavy bleeding and to prepare accordingly for risky situations such as surgery or childbirth. Depending on the form and severity of von Willebrand syndrome, life expectancy is not limited with the right treatment.

If the VWS is severe, the quality of life of those affected is often restricted. You are at very high risk of bleeding. Affected women can, for example, develop very heavy menstrual bleeding. In the rare case of type 3 VWD, those affected have to take medication for life.

How is Von Willebrand Syndrome treated?

Therapy is always necessary when the risk of bleeding increases in certain situations, for example when an operation is imminent. Even if the affected person has the severe but rare form of type 3 von Willebrand syndrome, lifelong treatment is necessary. The therapy also helps to improve the quality of life.

For the treatment, the doctor uses various drugs. The choice of active ingredient depends on the VWS type. In all forms, the use of so-called antifibrinolytics is possible. They increase blood coagulation and are mainly used for mucosal bleeding. Replacing the missing coagulation factor in the form of a drug is also a treatment option. In type 1, it is often sufficient to increase the body’s release of the von Willebrand factor with a specific active ingredient.

Pregnancy in Von Willebrand syndrome

In principle, pregnancy is also possible in women suffering from Von Willebrand syndrome. It is important that if you want to have children, you seek direct advice from your gynaecologist.

If there is a severe form of von Willebrand syndrome, it is necessary to inform the treating physicians (haematologists) about the desire to have children or the pregnancy. The same applies if the child’s father has the inherited form of Von Willebrand syndrome, as he may also pass the disease on to his children.

Regular check-ups are even more important during pregnancy. The doctor conducts informative talks before examinations that are associated with an increased risk of bleeding, for example before an amniocentesis . If necessary, a specialist in high-risk pregnancies will be consulted.

As a rule, the doctor examines the blood levels of von Willebrand factor and coagulation factor VIII in the third trimester of pregnancy in order to prepare for the birth accordingly. Since birth is almost always associated with pain, it is also important to clarify in advance which painkillers are suitable that do not increase the risk of bleeding.

A natural birth without a caesarean section is more advantageous . But even babies born vaginally can bleed. If these are too severe, the treating physicians may initiate therapy to stop the bleeding.

Menstruation in Von Willebrand syndrome

Women are more likely than men to develop VWS symptoms when affected by Von Willebrand syndrome. Because menstruation, pregnancy and childbirth are associated with a significantly increased risk of bleeding. Heavy menstrual bleeding is most common in women with von Willebrand syndrome.

In order to determine how much blood is actually lost during the menstrual period, gynecologists often ask how often hygiene items have to be changed daily and how many days the menstruation lasts. It is also important to inform the doctor of any other bleeding symptoms. These include nosebleeds, bruises or heavier/longer bleeding after, for example, dental surgery or childbirth.

If Von Willebrand syndrome is present and there is heavy menstrual bleeding, the doctor usually first prescribes the pill , i.e. a hormone preparation, to control the bleeding. If that is not enough, other preparations that increase blood clotting are used as an alternative or in addition to the therapy of von Willebrand syndrome.

What drugs are prohibited in von Willebrand syndrome?

Some medications should be avoided at all costs in von Willebrand syndrome. These include, in particular, painkillers with the active ingredient acetylsalicylic acid. Always seek advice from a doctor or pharmacist before taking medication. It is also advisable to read the package leaflet carefully before taking it for the first time. There you will find, among other things, information on active ingredients, contraindications and the type of intake.

Acetylsalicylic acid is also found in many over-the-counter preparations! Ask a pharmacist if you are unsure.

It is particularly important before surgery to coordinate with the doctor treating you about taking painkillers. In this way, it is clarified in advance which painkillers may and may not be taken by those affected.

What are the symptoms of Von Willebrand Syndrome?

Those affected by von Willebrand syndrome develop faster and heavier bleeding, especially bleeding from the mucous membranes. They usually show up as:

  • nosebleeds
  • bleeding gums
  • menstrual bleeding
  • Bleeding in the gastrointestinal area: Depending on the location of the bleeding, fresh blood appears in or on the stool and the stool is black (tarry stool).
  • Blood in the urine (dark/red urine color)

In addition, bleeding after surgery – especially on teeth, tonsils or the nose / paranasal sinuses – indicates Von Willebrand syndrome. Spontaneous bleeding into muscles or joints can occur in the rare type 3 von Willebrand syndrome.

Due to the more frequent and heavier bleeding, those affected are often pale and tired. The corners of the mouth are often torn. In addition, those affected usually suffer from concentration disorders. Doctors then often diagnose iron deficiency and anemia with a simple blood test .

Precautions in Von Willebrand Syndrome

As soon as you know that you or your child are affected by von Willebrand syndrome, there are a number of recommendations that you should heed. They can help prevent bleeding and help when bleeding does occur.

Sports: Is generally allowed, but make sure that these are sports that are associated with a lower risk of injury, such as swimming , gymnastics, hiking .

Basics in the event of an emergency: If you have injured yourself, it is advisable that you:

  • immobilize the affected body region
  • cool,
  • store up,
  • apply a pressure bandage if bleeding occurs
  • and consult a doctor if necessary.

Inform others: It doesn’t matter whether it’s your sports partner, your colleague at work or your life partner – inform those around you about your illness. If you have medicines that your doctor has prescribed for emergencies, you should carry them with you and let others know. In an emergency, help is organized quickly and important information is passed on directly.

It is advisable to carry an emergency card with information about Von Willebrand syndrome. Be sure to carry an international emergency identification card (also in English) with you when travelling.

How is Von Willebrand Syndrome diagnosed?

It often takes many years for von Willebrand syndrome to be diagnosed by a doctor. In women, it takes an average of 16 years from the onset of the first bleeding symptoms to VWD diagnosis. It is often hematologists, i.e. doctors who specialize in blood diseases, but also internists, general practitioners or gynecologists who diagnose the disease.

A detailed medical history is important for the diagnosis of von Willebrand syndrome. The doctor will specifically ask about the symptoms of the disease in order to identify the disease in you or your child. He will also ask if there are clusters in the family. In addition to the detailed discussion, the doctor checks the blood for its natural coagulation function.

To determine the exact type of von Willebrand syndrome, he will do special genetic tests.

What Causes Von Willebrand Syndrome?

In the vast majority of cases, the cause of Von Willebrand syndrome is congenital. It goes back to a genetic mutation passed on by at least one parent. In rare cases, von Willebrand syndrome is caused by other diseases or certain medications.

How is Von Willebrand Syndrome inherited?

Type 1, 2A, 2B and 2M are inherited in a dominant manner. This means that it is sufficient if only the father OR only the mother is affected by von Willebrand syndrome in order to pass the disease on to the child. Type 3 and type 2N are recessively inherited. Father AND mother must then both carry Von Willebrand syndrome in order for the child to develop it. If only one parent is a carrier of type 3 or type 2N Von Willebrand syndrome, the child will not get it, but will be a carrier and may in turn pass it on to their children.

Non-congenital, acquired von Willebrand syndrome

In children, acquired von Willebrand syndrome occurs, for example, with heart defects. In adults, it can develop as part of various diseases, for example:

  • heart diseases
  • Myeloproliferative neoplasms (MPN), i.e. rare, malignant diseases of the bone marrow
  • Autoimmune diseases such as an underactive thyroid (hypothyroidism)

Certain medications such as the active ingredients valproic acid (e.g. used in epilepsy ) and ciprofloxacin (an antibiotic) also cause von Willebrand syndrome in rare cases.

In the case of acquired VWD, the therapy is based on the underlying cause. If this is treated successfully, the symptoms of von Willebrand syndrome also subside.

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