Inherited illness: why is von Willebrand disease dangerous?

Detailed description of the study

Von Willebrand factor (VWF) is a large protein that is a blood clotting factor and is involved in stopping bleeding. It ensures the formation of a clot of platelets at the site of vessel damage and protects factor VIII, an antihemophilic plasma protein, from destruction.

The hemostatic system is a combination of mechanisms that are responsible for stopping bleeding when a vessel is damaged. First, a primary clot is formed due to the action of platelets and the walls of the vessel itself. Next, plasma proteins participate in the formation of a dense blood clot, which finally eliminates the defect. Von Willebrand factor, unlike other clotting factors, is directly involved in the formation of a blood clot.

Von Willebrand factor is synthesized in the bone marrow. In addition, it is produced by cells lining the inner surface of blood vessels (endothelium). The protein is able to bind to factor VIII, and if a vessel is damaged, it delivers it to the site of vessel damage for effective blood clotting. Also, von Willebrand factor binds to a protein on the surface of platelets, which activates their gluing to each other (adhesion). Another of its functions is the attachment of platelets to collagen, which is released when the integrity of the vascular wall is violated. All of these processes ultimately lead to successful stopping of bleeding and restoration of the integrity of the blood vessel.

A defect in the gene that responds to the production of von Willebrand factor leads to the development of hereditary coagulopathy - von Willebrand disease. There are three types of the disease. The first type is the most common. At the same time, the amount of VWF in the blood is moderately reduced and functions are not impaired. The second type is when the functional activity of VWF is impaired, even with sufficient levels in the blood. The third type is severe, observed quite rarely, the amount of EF is sharply reduced.

Clinically, the disease manifests itself as prolonged bleeding of various locations: from the nose, gums, gastrointestinal tract, uterus. The disease is characterized by the appearance of bruises that do not correspond to the size of the injury. Bleeding is also observed after small cuts that do not stop for a long time; bleeding time increases after operations and dental procedures, such as tooth extraction.

In severe forms of von Willebrand disease (often type 3), symptoms similar to hemophilia may occur due to factor VIII deficiency. Muscle hematomas and hemarthrosis appear - hemorrhages into the joint cavity. The consequences of the disease are cerebral hemorrhages, bleeding from internal organs, decreased hemoglobin in the blood (anemia).

Determining the amount of von Willebrand factor in the blood is necessary to assess the state of the coagulation system and timely diagnosis of von Willebrand disease, which leads to bleeding.

2.Types of disease depending on the severity of the disease

The severity of the disease is classified by type:

• 1 type
  The most common and easiest form. The decrease in blood clotting is insignificant. The patient may not be aware of the presence of the syndrome. Von Willebrand-Jurgens factor is present in the blood, but in insufficient concentration.
• Type 2
  There is von Willebrand-Jurgens factor in the blood, but it does not work. The form is rarer, but also more dangerous. It is inherited in some cases - with a certain combination of genetic characteristics of the parents. It manifests itself as minor bleeding without visible prerequisites.
• Type 3
  Only 5% of patients have von Willebrand-Jurgens factor completely absent. Serious risk of bleeding, anemia and complications during operations.

Most often, von Willebrand-Jurgens syndrome is a congenital pathology. The disease is acquired against the background of some other conditions and disorders.

Since von Willebrand-Jurgens syndrome is based on a clotting disorder, blood can appear where bleeding should not occur in a healthy person. The most commonly observed:

• nosebleeds;
• menstrual bleeding in women;
• blood in urine;
• subcutaneous hematomas;
• bleeding of the oral mucosa;
• dark stools (stained with blood);
• joint hemorrhages as a result of movement.

Even with type 1 of the disease, the patient, when visiting any doctor, must inform him of his diagnosis

, since many manipulations, studies and procedures involve microtraumas that are not dangerous for healthy people. The patient's condition must be taken into account when prescribing and choosing a particular treatment regimen for him.

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References

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4. Treatment of von Willebrand-Jurgens syndrome

Specific treatment

this disease does not exist. Medical care is usually aimed at stopping bleeding that occurs. If surgical treatment is necessary, measures are taken to prevent bleeding (plasma preparations with a high content of von Willebrand factor, desmopressin, aminocaproic acid are used). In cases of severe forms of the disease, when there is a high risk of bleeding even from household injuries and bruises, medications are prescribed that prevent the destruction of blood clots after they form. As an emergency, fibrin glue or prombin powder is used to help stop bleeding from the wound.

Patients should

know and avoid taking medications whose side effect is a decrease in blood clotting (heparin, aspirin, ibuprofen, naproxen, medications containing salicylates). Patients with severe forms should be able to inject themselves with clotting factors. It is also necessary to know and identify the signs of hidden bleeding. To reduce household injuries, you need to monitor your weight, maintain good physical shape, while avoiding dangerous sports.

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Diagnostics

Diagnosis of von Willebrand disease requires the indispensable participation of hematologists. It is impossible to make a diagnosis at the level of a clinic or children's consultation due to the lack of capabilities of the laboratories of these institutions to conduct specific diagnostic tests and enzyme-linked immunosorbent technologies. The doctor assumes the disease when interviewing relatives, examining the patient and taking into account information from the anamnesis.

Moreover, available tests vary in sensitivity and diagnostic value. Therefore, an algorithm for examining the suspected patient has been developed.

1. First, a coagulogram is studied with all indicators of coagulation, including bleeding time. The test can be done at your clinic. If pathological abnormalities are detected, the patient is referred to the hematology center.
2. To identify a specific type of disease and the qualitative side of the defect, a comparison of the impaired aggregation ability under the influence of ristocetin with the normal one is used - under the influence of collagen, thrombin, ADP, and adrenaline.
3. The main method of detecting a decrease in the amount of factor VIII in the blood is to determine the activity of the patient’s platelets treated with formaldehyde in reaction with a solution of ristocetin.
4. Using the collagen-binding technique, the impaired functional ability of factor VIII and the specific type of disease are identified.

In the diagnosis of concomitant lesions of the mucous membranes it is necessary:

• examination by an otolaryngologist;
• esophagogastroduodenoscopic examination;
• colonoscopy (examination of the intestines).

For treatment, it is important to identify vascular formations in the form of tortuosity, angiomas, extensions up to 2 mm, which contribute to bleeding.

Symptoms

The symptoms of von Willebrand disease are extremely diverse: from minor episodic bleeding to massive, debilitating bleeding, leading to severe blood loss.

Signs characteristic of von Willebrand disease:

• severe, prolonged or spontaneously renewing bleeding after minor surgical interventions, tooth extraction;
• subcutaneous hematomas that appear after minor traumatic impacts or spontaneously
• bleeding for more than 15 minutes after minor injuries or spontaneously recurrent bleeding 7 days or more after injury;
• hemorrhagic skin rash;
• severe anemia;
• intense, prolonged menstruation;
• spontaneous nosebleeds lasting more than 10 minutes or requiring medical intervention due to the intensity;
• blood in feces in the absence of gastrointestinal pathology that can provoke the development of gastrointestinal bleeding.

More often, increased bleeding is observed in childhood, decreasing as they grow older, and subsequently there is an alternation of exacerbations and remissions.