Von Willebrand’s disease is an inherited blood disease that causes a clotting deficit. This causes patients who suffer from it to bleed more often or bruise more frequently. The case and the type of von Willebrand’s disease must be carefully studied to provide the appropriate treatment.
Von Willebrand’s disease: what it is
Von Willebrand’s disease is an inherited coagulation disease that prevents the blood from clotting properly, causing patients to have a tendency to bleed spontaneously or, in certain situations of hemorrhagic risk, to bleed. It is undoubtedly the most common coagulopathy with a prevalence of 1-2% of the population and, unlike hemophilia, it can affect both men and women. It was first described in 1926 by Dr. Erik Von Willebrand.
How does von Willebrand’s disease occur?
Normally when bleeding occurs when a blood vessel ruptures from a wound, platelets plug the hole in the vessel to prevent further blood flow. With the help of calcium, vitamin K and a series of plasma proteins called coagulation factors and, in particular, factor I which is Fibrinogen, the platelets make a kind of “net” so that the plug formed remains stable in place, in order to close the wound. When this mesh dries and hardens, it forms a scab that protects the wound while it is closing.
In the blood there is a protein known as von Willebrand factor, which helps the platelets stick or aggregate to the damaged parts of the blood vessel. In addition, this factor is also involved in the proper transport of the other coagulation factors, specifically factor VIII, the deficiency of which produces the most frequent type of hemophilia, or type A.
Thus von Willebrand’s disease patients have clotting problems because the levels or function of these blood components necessary for clotting are abnormal.
Types of von Willebrand’s disease
Traditionally, three types of the disease are known, depending on the type of alteration on the clotting protein that occurs:
– Type 1: the patient has less von Willebrand factor in the blood than normal. Although this disease may worsen with the intake of Aspirin and other non-steroidal anti-inflammatory drugs (NSAIDs), or in situations of hemorrhagic risk, such as surgery or trauma, the symptoms, in general, may be so mild that the affected person may never be diagnosed. Spontaneous bleeding does not usually occur. This is the most common type and the mildest form of the disease.
– Type 2: In this type the body makes an abnormal von Willebrand factor, which obviously leads to clotting problems. In this case bleeding in the form of bruising of the skin and mucous membranes may be spontaneous.
– Type 3: There is a production defect of both von Willebrand factor and factor VIII. The concentrations of both coagulation factors in the serum of patients is practically undetectable. The incidence of spontaneous bleeding, both superficial (of skin and mucous membranes) and deep (affecting certain types of viscera or joints), is high.
There are cases of pseudo von Willebrand’s disease or acquired von Willebrand’s disease, where platelet function is abnormal. This causes them to stick to the von Willebrand factor too well, resulting in impaired clotting and a tendency to bleed, either due to low levels of platelets in the blood or low concentration of the factor in the patient’s serum. This has been seen in certain types of hemopathies, such as Amyloidosis, Multiple Myeloma, Waldestron’s Macroglobulinemia or due to the consumption of certain types of drugs such as antihypertensives, immunosuppressants, antibiotics or even oral antidiabetics, among others. The clinical repercussion of this phenomenon in the form of superficial bleeding of both skin and mucous membranes is very mild and is resolved by controlling the underlying pathology or situation that causes it.
Von Willebrand’s disease, a hereditary disease
As in hemophilia, von Willebrand’s disease is a genetic disorder that is transmitted from parents to children, so that the child of a male or female with the disease has a 50% chance of inheriting the affected gene. In types 1 and 2 the offspring has inherited the gene from one of the parents or from the mother or father, while in type 3 the child has necessarily inherited the genetic alteration from both parents.
Signs and symptoms of von Willebrand’s disease
Von Willebrand’s disease includes the following signs and symptoms:
– Marked tendency to bruise or bruise.
– Heavy menstruation or other abnormal bleeding in women of childbearing age.
– Tendency to bleed from the gums, nose or intestinal mucosa.
– Bleeding that is slow to clot after trauma, cuts, or bleeding for too long after dental extractions or other surgery
Diagnosis of von Willebrand’s disease
As in any hematologic process, a medical history is essential to look for a personal or family history of frequent bleeding. A systematized physical examination will help the hematology expert to detect bleeding foci or lesions.
As for specific laboratory tests that will help us to detect the precise type of Von Willebrand’s disease is found:
– Determination of clotting times
– Platelet aggregation test
– Determination of the concentrations of von Willebrand factor, factor VIII and platelets in the patient’s blood.
It is sometimes necessary to repeat the tests several times because the concentrations of these components may vary physiologically in a person throughout life, for example, with age or during pregnancy.
Treatment and life expectancy of von Willebrand’s Disease
The quality of life, especially for patients with type 1 disease, which is the most common, is similar to that of the unaffected population. Adolescents suffering from the most severe types of the pathology should refrain from risky or contact sports such as football, field hockey, martial arts or boxing, as is the case with hemophilia, in order to avoid unnecessary trauma or blows.
In the event of bleeding, simply tamponade the affected area for a period of time to stop the bleeding. For girls of menstruating age, contraceptive or antifibrinolytic treatments are sometimes prescribed to treat excessive bleeding.
When these measures are not effective, other treatments may be necessary, such as Desmopressin, useful only in type 1 and some types 2 of the disease. This substance causes a temporary increase in the concentration of factor in the blood. It can be administered intranasally or as an intravenous infusion and is useful to prevent bleeding in risk situations, such as surgery or tooth extraction.
For the rest of the types 2 and 3 of the pathology where this drug has no effect, they need to be treated with drugs that, as in hemophilia, contain both factor VIII and von Willebrand factor. This type of medication is administered intravenously.