My blood is boiling! ... is this not von Willebrand disease?

Characteristic

Von Willebrand disease (vWD ) is a congenital (inherited) plasmatic hemorrhagic disorder. It occurs in about 0.1% to 1% of the population (in Poland about 0.5% to 1% of the population, which is almost twice as common as hemophilia). Symptoms can be very mild or latent, which is why many people are not even aware of the anomaly in their body. Even in members of the same family, the clinical picture of the disease can be different! Usually, the problem is revealed in the case of a more serious injury or the need for surgery.

What is vWF?

The symptoms of the disease are caused by a deficiency (or absence) of von Willebrand factor (vWF) and (secondarily) factor VIII in the blood.

Von Willebrand factor is a protein found in the bloodstream that is essential for clotting processes. It mediates platelet adhesion to collagen (i.e., their connection).

An unfavorable concentration of von Willebrand factor causes the blood not to clot properly, and the adhesion of platelets to the bleeding site (i.e. the damaged blood vessel wall) is impaired. The presence of von Willebrand factor also prolongs the durability of other clotting factors.

Symptoms of von Willebrand disease

• tendency to bruise,
• frequent or prolonged nose bleeds,
• excessive bleeding from the gums,
• prolonged bleeding from minor cuts, injuries to the skin or mucous membranes,
• prolonged and heavy menstrual bleeding , which may lead to iron deficiency,
• bleeding from the upper and lower gastrointestinal tract,
• prolonged bleeding following trauma, surgery or dental procedures, or after childbirth.

Types of von Willebrand disease

• Type 1 – the most common and mildest form, inherited mainly in an autosomal dominant manner (i.e. two copies of the gene are received from biological parents – one normal, the other “defective”, which dominates the first), although there are cases of recessive inheritance. It is characterized by a slight decrease in the amount of von Willebrand factor. Symptoms are usually mild, although in health-threatening situations, serious bleeding may occur.
• Type 2 – consisting of a qualitative defect of the von Willebrand factor (disorders of its structure and function). The disease is inherited rather autosomal dominantly, however, there are cases of recessive inheritance (i.e. when the gene comes from both parents). Symptoms can have a wide spectrum of intensity: from moderate through medium-severe, even severe.
• Type 3 – the most serious (and fortunately also the rarest) type of the disease, inherited in an autosomal recessive manner. These patients have a deficiency of vWF (the factor value is very low or completely absent). The symptoms of the bleeding diathesis are always very severe, and may even lead to bleeding in the joints and muscles, which will appear for no specific reason.
• Type 4 (also known as platelet) – involves a mutation of the receptor for the factor on blood platelets. Platelet type of von Willebrand disease occurs sporadically. Symptoms range from mild to moderate, regardless of gender or age. This type of disease is inherited in an autosomal dominant manner.

Sometimes, the so-called acquired form of von Willebrand disease occurs . It develops when the body destroys the properly produced von Willebrand factor (for example, as a result of cancer or autoimmune diseases).

Diagnosis of von Willebrand disease

In the case of vWD, the identification process is quite complicated and consists of two stages:

1. Clinical diagnostics – i.e. medical and family history and a physical examination by a primary care physician, who then determines the further research strategy.
2. Laboratory diagnostics – The Polish Society of Hematologists and Transfusion Medicine issued a recommendation in 2008 that in case of blood clotting disorders and suspected von Willebrand disease, the following tests should be performed in patients:

• Complete blood count.
• Coagulogram – which includes prothrombin time, partial thromboplastin time, fibrinogen concentration and thrombin time. This is a complete set of tests to assess the ability of blood to clot. It is performed on patients before surgical procedures or those struggling with the symptoms mentioned above (a coagulogram allows to determine whether the problem results from a clotting system disorder or lies somewhere else in the body).
• Ristocetin cofactor activity (i.e. the concentration and activity of vVF and VIII factors) – the test consists in determining the ability of vWF to interact with platelets in the presence of ristocetin (an intermediary substance necessary for its proper functioning).

Treatment

Von Willebrand disease has a genetic basis (it is inherited from parents), so in most patients it is impossible to completely cure it. As I mentioned earlier, the acquired form of the disease is extremely rare.

Focused treatment depends on the type of disease. Sometimes it is necessary to administer a factor concentrate, other times antihemorrhagic drugs (such as Exacyl), and in still other cases – contraception. In the treatment, desmopressin is also used , an organic chemical compound that increases the concentration of vWF and factor VIII. Implementation of appropriate therapy is necessary before planned surgeries, childbirth, etc.

People struggling with von Willebrand disease should also follow general recommendations, such as:

• not using medications that reduce blood clotting,
• avoiding medications administered intramuscularly,
• in case of bleeding – use of preparations prescribed by a hematologist.

Von Willebrand disease vs. menstruation

Menorrhagia is the most common symptom of vWD in menstruating individuals (after excluding diseases of the reproductive system!). The risk of developing hemorrhagic ovarian cysts and – probably – endometriosis is increased (research in this area is still ongoing).

Some researchers suggest that people with VWD uteri have a higher incidence of spontaneous abortion than those with uteri in the general population. The risk of postpartum hemorrhage is also increased.

In menstruating people with vWD who suffer from prolonged and heavy periods, treatment sometimes involves hormonal drugs (combined oral contraceptives – in the case of a mild form of the disease), an intrauterine contraceptive system or the previously mentioned desmopressin. Tranexamic acid, which has anti-hemorrhagic effects, is administered occasionally.

The choice of treatment method depends on the patient's age, her preferences, comorbidities, and plans for motherhood.

Finger on the pulse!

People with von Willebrand disease should have regular tests for anemia. In the case of pregnancy, you should make an appointment with a gynecologist as soon as possible, who will refer the patient for a hematology consultation. Thanks to this, the parent and fetus will have appropriate care at every stage of pregnancy. Interestingly, pregnancy causes an increase in the level of von Willebrand factor in the blood of most people with von Willebrand disease, which provides better protection against bleeding during childbirth. However, it should be remembered that the level of clotting factors decreases after childbirth, which can cause abnormal bleeding. People with von Willebrand disease may experience irregular vaginal bleeding during menopause (usually between the ages of 45 and 50).