Willebrand-Jürgens Syndrome

Willebrand-Jürgens Syndrome

Willebrand -Jürgens syndrome is a congenital disease with an increased tendency to bleed. It is also often called von Willebrand syndrome or vWS for short and can be divided into different types. All belong to the group of hemorrhagic diatheses.

What is Willebrand-Jürgens Syndrome?

The group of disorders was named after Finnish physician Erik Adolf von Willebrand and German physician Rudolf Jürgens. A common feature of all forms of Willebrand-Jürgens syndrome is a quantitative or qualitative deviation of the so-called von Willebrand factor. Von Willebrand factor is often referred to as the clotting factor because it plays an important role in blood clotting. For milkman syndrome meanings, please visit whicheverhealth.com.

However, since it is not directly involved in the coagulation cascade, this title is technically not entirely correct. Rather, it belongs to the acute phase proteins. The deviations in the von Willebrand factor lead to disorders in blood clotting and a pathologically increased tendency to bleed. One also speaks of a hemorrhagic diathesis.

Causes

Willebrand-Jürgens syndrome is genetic. There are various mutations on chromosome 12 at gene locus 12p13.3. There are also acquired forms, but these are extremely rare. They usually occur as an accompanying disease in heart valve defects, in the context of autoimmune diseases or in lymphatic diseases. Willebrand-Jürgens syndrome can also occur as a side effect of medication.

Men and women are equally affected by the disease. However, the manifestations differ from case of illness to case of illness. In type 1 of the syndrome, there is a quantitative deficiency, which means that too little von Willebrand factor is formed. About 60 to 80 percent of all cases of the disease belong to type 1.

About 20 percent of all patients suffer from type 2. Here the Willebrand factor is present in sufficient quantities, but has defects. With type 2, five sub-forms can be distinguished. All subforms except type 2C are inherited in an autosomal dominant manner. The rarest but most serious form of Willebrand-Jürgens syndrome is type 3. Here there is no Willebrand factor in the blood at all. This form is inherited in an autosomal recessive manner.

Symptoms, Ailments & Signs

Many patients, particularly type 1 patients, have little to no symptoms and can live normal lives. Some of those affected have a tendency to long-lasting bleeding from injuries or postoperative bleeding. In addition, even small traumas can lead to large-scale hematomas. Menses may be prolonged in female patients. This is called menorrhagia. If menstruation is also characterized by increased blood loss, this is hypermenorrhea.

The first signs of Willebrand-Jürgens syndrome are frequent nose or gum bleeding. In children, bleeding occurs during the change of teeth, which is difficult to stop. In severe cases, especially type 3, bleeding into the muscles and joints can occur. Bleeding in the gastrointestinal area is also possible. These often occur in type 3 patients in early childhood.

Diagnosis & course of disease

If the syndrome is suspected, standard blood coagulation tests are performed. The blood count and the Quick’s value (INR) are usually normal. The partial thromboplastin time (PTT) can be altered in severe cases. The PTT provides information about the functionality of the intrinsic blood coagulation system. The bleeding time is also determined, but in many cases, especially in type 1, it is unremarkable. In type 2 it is occasionally extended, in type 3 it is actually always extended.

In all types, the factor VII-associated antigen, this is the von Willebrand factor, is always reduced. vWF activity is also reduced. In type 3 and a subtype of type 2 there is also a reduced coagulation factor VIII value. In type 1 and the other subtypes of type 2, however, this coagulation factor is normal.

Both quantitative and quantitative investigations of the Willebrand factor are carried out so that the various types and subforms can be distinguished from one another. Methods such as ELISA, electrophoresis or multimer analyzes are used for this. It is important to make a differential diagnosis from hemorrhagic diatheses of other origins.

Complications

In many cases, those affected by Willebrand-Jürgens syndrome do not suffer from any particular symptoms and therefore no further complications. However, the syndrome can also lead to heavy bleeding in some people and, in general, to a significantly increased tendency to bleed. As a result, even very slight and simple injuries can lead to heavy bleeding and possibly to blood loss.

Constant nosebleeds can also occur. Especially in the case of injuries or after surgical interventions, those affected are dependent on taking medication to alleviate this bleeding. In women, Willebrand-Jürgens syndrome can also lead to heavy and, above all, long menstrual bleeding. As a result, many women also suffer from mood swings and often severe pain.

Many of those affected also experience bleeding gums and bleeding in the stomach and intestines due to the syndrome. The treatment of Willebrand-Jürgens syndrome can take place with the help of medication. There are no particular complications. Patients are always dependent on taking medication in their lives if bleeding occurs. If the disease is diagnosed and treated early, the life expectancy of the affected person will not be reduced.

When should you go to the doctor?

If there is unusually heavy bleeding from minor cuts or injuries to the body, a doctor should be consulted. If the person concerned suffers more from the development of bruises or skin discolouration, the cause must also be clarified. If left untreated, the loss of large amounts of blood can lead to a life-threatening condition. Therefore, a doctor’s visit should take place as soon as the first abnormalities appear. If menstruation in sexually mature girls or women is associated with immense blood loss, a doctor should be consulted. If nosebleeds or bleeding of the gums occur frequently, it is advisable to discuss the observations with a doctor.

It can be a warning signal from the body. If symptoms such as dizziness, numbness or a decrease in internal strength occur as a result of blood loss, this is a worrying situation. In acute cases, a doctor must be consulted as soon as possible. In the event of disturbances of consciousness or a loss of consciousness, an emergency service must be alerted. In addition, first aid measures must be carried out by those present. If emotional disorders occur in addition to physical irregularities, there is also a need for action. In the case of mood swings, pain, general malaise or inner weakness, the symptoms should be examined more closely by a doctor.

Treatment & Therapy

Long-term therapy is usually not necessary, especially in the case of mild forms. Patients should avoid acetylsalicylic drugs, such as aspirin, as they can inhibit platelet function and increase hemorrhagic diathesis. Desmopressin is recommended before surgery or in the event of increased nosebleeds. Desmopressin stimulates the release of von Willebrand factor. If desmopressin has no effect, administration of activated coagulation factors VII or VII may be indicated.

In the event of bleeding, careful hemostasis must be carried out. A pressure bandage, for example, is suitable for this. In severe cases, especially in type 3, a blood coagulation factor preparation is administered in the event of injuries and trauma. The Willebrand factor may also be substituted at intervals of two to five days. Children and young people with confirmed Willebrand-Jürgens syndrome should always carry an emergency card with them. The exact diagnosis, including type, blood group and contact details for emergencies should be noted on this.

Patients with a severe syndrome should avoid high-risk sports and ball sports with a high risk of injury. If the Willebrand-Jürgens syndrome is based on another disease, the syndrome will also be cured if the causative disease is cured.

Prevention

In most cases, Willebrand-Jürgens syndrome is inherited. Thus, the disease cannot be prevented. In order to prevent potentially life-threatening bleeding, a doctor should always be consulted for medical clarification at the first indication of a hemorrhagic diathesis.

Aftercare

Those affected with Willebrand-Jürgens syndrome usually only have very limited options for direct aftercare. Since it is a congenital disease that usually cannot be completely cured, sufferers should ideally consult a doctor at the first signs and symptoms of the disease and also initiate treatment to prevent the occurrence of other symptoms .

Genetic testing and counseling is also very useful if you want to have children, in order to prevent the syndrome from being passed on to descendants. Most of those affected are dependent on various surgical interventions with which the symptoms and deformities can usually be alleviated well. The person concerned should definitely rest and rest after the procedure.

Physical exertion or stressful activities should be avoided in order not to unnecessarily burden the body. Most people affected by this disease are dependent on taking various medications that can alleviate and limit the symptoms. The person concerned should always ensure that they take the medication regularly and also pay attention to the prescribed dosage in order to alleviate and limit the symptoms.

You can do that yourself

In everyday life, care should be taken to keep the accident risk of the person concerned as low as possible. Since blood clotting is disturbed, open wounds require special care. Dangerous situations, sports activities and physical activities must be carried out in such a way that no injuries occur, if possible.

It is also advisable to carry a note with the blood group and the diagnosed disease. A so-called emergency ID card should always be kept within easy reach on your body or in your handbag. This can be life-saving in emergency situations, since people or emergency doctors can be informed immediately about the problem in the event of an accident and appropriate measures can be initiated. In addition, sufficient wound dressings should always be carried with you so that possible injuries can be reacted to immediately.

Since the illness can be associated with mood swings or other abnormal behavior, psychotherapeutic support should be sought. This can be perceived as helpful when dealing with stressful situations or in phases of emotional stress. It is learned how the person concerned can react appropriately in situations of mental overload. In addition, he learns how he can educate those around him about possible developments while saving face. It has been shown that sufferers often have strong concerns in this area.

Willebrand-Jürgens Syndrome