Von Willebrand disease

The von Willebrand syndrome is an inherited bleeding disorder that is one of the most common forms of hemophilia. Its prevalence affects about 1 in 100 people on average; however, in many cases, the symptoms are mild, and therefore many individuals are unaware of their condition. This means that the actual incidence of the disease is likely higher than what diagnoses indicate.

There are different forms of von Willebrand syndrome, some of which are inherited, while others are associated with acquired conditions. This disease affects both men and women, as it can present regardless of gender. The von Willebrand factor, which plays a key role in the blood coagulation process, not only helps with the adhesion of platelets but also protects the functioning of coagulation factors. Understanding the disease requires knowledge of the complex processes of coagulation and the role of the von Willebrand factor.

In the following sections, we will provide a detailed overview of von Willebrand syndrome, its types, symptoms, diagnosis, and treatment to give a comprehensive picture of this important health issue.

Types of von Willebrand Syndrome

Von Willebrand syndrome can be classified into three main subtypes, each associated with different genetic abnormalities and functional problems. The first type, von Willebrand syndrome type 1, is the most common form of the disease, characterized by reduced levels of von Willebrand factor and factor VIII. This type usually presents with mild symptoms and is often diagnosed in adulthood.

The second type, known as type 2, is characterized by structural and functional defects of the von Willebrand factor. There are four subtypes of this type, each demonstrating different functional disorders. These abnormalities affect the factor’s ability to promote platelet aggregation, which can increase the risk of bleeding.

The third type is the most severe form of von Willebrand syndrome. In this case, von Willebrand factor is almost completely absent from the body, preventing the formation of platelet plugs. As a result, the blood coagulation processes are significantly impaired, and the patient may face severe bleeding problems. Individuals with type 3 von Willebrand syndrome often experience spontaneous bleeding, which may require serious medical intervention.

Symptoms of von Willebrand Syndrome

The symptoms of von Willebrand syndrome are generally mild, except in the case of the third type, where bleeding can be more severe. The most common complaints include mucosal bleeding, which often presents as gum bleeding. In women, an increase in menstrual bleeding is particularly characteristic and can be one of the most noticeable symptoms of the disease.

The disease is often diagnosed in adulthood, as the initial symptoms may not be prominent. Minor procedures, such as tooth extractions, may result in prolonged bleeding, and the amount of bleeding is not always proportional to the extent of the procedure. Additionally, bruising on the skin may occur spontaneously, and patients often do not know what caused it.

In individuals with type 3 von Willebrand syndrome, joint bleeding may also occur, although this type of bleeding is less commonly observed. The diagnosis of the disease often comes to light during the investigation of bleeding consequences, such as joint problems.

The Diagnosis Process

The diagnosis of von Willebrand syndrome is based on medical history and laboratory tests. Doctors carefully examine the patient’s history and perform blood tests to determine the characteristics of the blood coagulation process. Laboratory tests also measure the bleeding time, which provides important information about the presence of the disease.

During the bleeding time test, a small cut is made on the skin, and the time it takes for the bleeding to stop is observed. The size of the wound remains constant, allowing for comparison with normal bleeding times. Additionally, specific tests determine the presence and activity of von Willebrand antigen, which can assist in establishing the diagnosis.

It is important to note that diagnosing von Willebrand syndrome is not always straightforward, as the symptoms may resemble those of other bleeding disorders. Therefore, accurate diagnosis requires professional medical examinations and the involvement of experienced hematologists.

Treatment of von Willebrand Syndrome

The approach to treating von Willebrand syndrome depends on the type of the disease and the severity of the symptoms. Since there is currently no cure for the hereditary forms of the disease, the goal of treatments is to prevent and manage bleeding. The use of aspirin derivatives should be avoided, as they prolong bleeding time, which is an undesirable effect for patients.

In type 1 von Willebrand syndrome, a medication called vasopressin can help release von Willebrand factor from the body’s stores, thereby increasing the factor’s level in the blood. In more severe cases, such as types 2 or 3, the use of factor concentrates is recommended to externally replenish the missing von Willebrand factor.

It is crucial for patients to avoid injuries, as controlling bleeding can be vital during treatment. If bleeding does occur, appropriate medications can help stop the bleeding, and medical intervention may be necessary depending on the severity of the condition.

The treatment of von Willebrand syndrome is a complex process that requires continuous medical supervision and active patient participation in managing their own health.