Willebrand-Jürgens syndrome is a congenital disorder with an increased tendency to bleed. It is also often called von Willebrand syndrome, or vWS for short, and can be divided into several types. All belong to the group of hemorrhagic diatheses.
What is von Willebrand syndrome?
The group of disorders was named after the Finnish physician Erik Adolf von Willebrand and the German physician Rudolf Jürgens. The common feature of all forms of Willebrand-Jürgens syndrome is a quantitative or qualitative abnormality of the so-called von Willebrand factor. The von Willebrand factor is often referred to as the coagulation factor because it plays an important role in blood clotting. However, since it is not directly involved in the coagulation cascade, this title is not technically correct. Rather, it belongs to the acute phase proteins. Deviations in the von Willebrand factor lead to disorders in blood coagulation and an abnormally increased bleeding tendency. This is also referred to as a hemorrhagic diathesis.
Causes
Willebrand-Jürgens syndrome is genetic. Various mutations are found on chromosome 12 at gene locus 12p13.3. Acquired forms also exist, but these are extremely rare. They usually occur as concomitant disease in heart valve defects, in the context of autoimmune diseases or in lymphatic diseases. Willebrand-Jürgens syndrome can also develop as a side effect of medication. Men and women are equally affected by the disease. However, the manifestations differ from one case of the disease to another. In type 1 of the syndrome, there is a quantitative deficiency, which means that too little von Willebrand factor is produced. 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, in which sufficient von Willebrand factor is present but there are defects. In type 2, five subtypes can be distinguished. All subtypes with the exception of type 2C are inherited autosomal-dominantly. The rarest but most severe form of Willebrand-Jürgens syndrome is type 3, in which the blood contains no Willebrand factor at all. This form is inherited in an autosomal recessive manner.
Symptoms, complaints, and signs
Many patients, especially type 1 patients, have little to no symptoms and can lead normal lives. Some of those affected have a tendency to have prolonged bleeding from injury or postoperative bleeding. In addition, extensive hematomas may occur even with minor trauma. In female patients, menstruation may be prolonged. This is referred to as menorrhagia. If menstruation is also characterized by increased blood loss, this is called hypermenorrhea. The first signs of Willebrand-Jürgens syndrome are frequent bleeding from the nose or gums. In children, bleeding occurs during teething and is difficult to stop. In severe forms, especially in type 3, bleeding into muscles and joints may occur. Bleeding in the gastrointestinal tract is also possible. These often occur in early childhood in type 3 patients.
Diagnosis and course of the disease
If the syndrome is suspected, standard blood clotting tests are performed. The blood count and Quick (INR) are usually normal. The partial thromboplastin time (PTT) may be altered in severe cases. The PTT provides an indication of the functionality of the intrinsic coagulation system. The bleeding time is also determined, but it is without findings in many cases, especially in type 1. In type 2, it is occasionally prolonged; in type 3, it is actually always prolonged. In all types, the factor VII-associated antigen, which is the von Willebrand factor, is always reduced. The vWF activity is also decreased. In type 3 and one subtype of type 2, a reduced coagulation factor VIII level is also found. In type 1 and the other subtypes of type 2, however, this clotting factor is normal. In order to distinguish between the different types and subtypes, both quantitative and quantitative tests of the Willebrand factor are performed. Methods such as ELISA, electrophoresis or multimer analysis are used for this purpose. It is important to differentiate Willebrand factor from hemorrhagic diatheses of other etiologies.
Complications
In many cases, people with Willebrand-Jürgens syndrome do not suffer from any particular symptoms and thus no other complications. However, in some people, the syndrome can also lead to severe bleeding and, in general, a markedly increased tendency to bleed. As a result, even very minor and simple injuries can lead to severe bleeding and thus possibly blood loss. A constant nosebleed can also occur. Particularly in the case of injuries or after surgical procedures, those affected are therefore dependent on taking medication to alleviate these bleedings. In women, Willebrand-Jürgens syndrome can thus also lead to heavy and, above all, prolonged menstrual bleeding. As a result, many women also suffer from mood swings and often severe pain. Many sufferers also experience bleeding gums and also bleeding in the stomach and intestines due to the syndrome. Treatment of Willebrand-Jürgens syndrome can take place with the help of medication. There are no particular complications in this process. Patients are always dependent on taking medications in their lives if bleeding occurs. If the disease is diagnosed and treated early, the life expectancy of the affected person is not reduced.
When should you see a doctor?
If even minor cuts or injuries on the body show unusually heavy bleeding, a doctor should be consulted. If the affected person suffers increasingly from the development of bruises or skin discoloration, clarification of the cause is also necessary. If left untreated, the loss of large amounts of blood can lead to a life-threatening condition. Therefore, a visit to the doctor should already take place at the first abnormalities. If menstruation in sexually mature girls or women is associated with immense blood loss, consultation with a doctor should take place. If there are frequent nosebleeds or bleeding of the gums, it is advisable to discuss the observations with a doctor. It may be a warning signal of the organism. If, in the case of blood loss, symptoms such as dizziness, numbness or a decrease in internal strength occur, a worrying situation is present. In acute cases, a doctor must be consulted as soon as possible. In case of disturbances of consciousness or a loss of consciousness, an ambulance service must be alerted. In addition, first aid measures must be carried out by persons present. If emotional disturbances occur in addition to physical irregularities, action is also required. In the case of mood swings, pain, a general feeling of malaise or internal weakness, the complaints should be examined more closely by a doctor.
Treatment and therapy
Especially in mild courses, long-term therapy is usually not necessary. Patients should avoid acetylsalicyl-containing drugs, such as aspirin, because they may inhibit platelet function and exacerbate the hemorrhagic diathesis. Desmopressin is recommended before surgical procedures or in cases 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 hemorrhage, careful hemostasis must be performed. A pressure dressing, for example, is suitable for this purpose. In severe cases, especially in type 3, a blood clotting factor preparation is administered in case of injury or trauma. Willebrand factor may also be substituted at intervals of two to five days. Children and adolescents with confirmed Willebrand-Jürgens syndrome should always carry an emergency identification card. This should state the exact diagnosis including type, blood group, and emergency contact information. Patients with severe syndrome should avoid high-risk sports and ball sports with a high risk of injury. If 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. However, to prevent potentially life-threatening bleeding, a physician should always be consulted for medical evaluation at the first indication of a hemorrhagic diathesis.
Aftercare
Affected individuals usually have very limited options for direct follow-up care with Willebrand-Jürgens syndrome. Since it is a congenital disease that usually cannot be completely cured either, affected individuals should ideally see a doctor at the first signs and symptoms of the disease and also initiate treatment to prevent the onset of other symptoms. Genetic testing and counseling is also very useful if a person wishes to have children, in order to prevent the possible transmission of the syndrome to their descendants. Most of the affected persons are dependent on various surgical interventions for this disease, with which the symptoms and the malformations can usually be well alleviated. In any case, the affected person should rest and take it easy after the operation. Physical exertion or stressful activities should be avoided in order not to put unnecessary strain on the body. Most sufferers of this disease are dependent on taking various medications that can alleviate and limit the symptoms. Thereby, the affected person should always pay attention to a regular intake and likewise to the prescribed dosage of the medication in order to alleviate and limit the discomfort.
What you can do yourself
In everyday activities, care should be taken to minimize the risk of accidents for the affected person. Since blood clotting is disturbed, special care is required for open wounds. Dangerous situations, sporting activities and physical activities should be carried out in such a way that, if possible, no injuries occur. 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 the body or in the handbag. This can be life-saving in emergency situations, as people or emergency doctors can be informed immediately in the event of an accident and appropriate measures can be initiated. Furthermore, sufficient wound dressings should always be carried so that immediate action can be taken in the event of possible injury. Since the disease can be associated with mood swings or other behavioral abnormalities, psychotherapeutic support should be sought. This can be found helpful in coping with stressful situations or in phases of emotional strain. The person concerned learns how to react appropriately in situations of emotional overload. In addition, he learns how he can at the same time inform those around him about possible developments according to his feelings in a face-saving manner. It has been shown that sufferers often have strong concerns in this area.
