Von Willebrand disease: how to treat it?
Von Willebrand disease is a type of hemorrhagic diathesis that is inherited. The disease is characterized by increased bleeding, which develops against the background of a deficiency of plasma von Willebrand factor. In this case, the entire hemostasis system suffers. Clotting factor VIII undergoes decay, blood vessels dilate, and the permeability of their walls increases. All this leads to the fact that a person has frequent spontaneous bleeding, while they are localized in various places and have different intensity.
Hemostasis is due to the normal functioning of the coagulation and anticoagulation system. If the integrity of the vascular wall is violated, bleeding develops, which will continue until the anticoagulant components of the blood are activated. As a result of their work, a clot (thrombus) is formed in the blood, which blocks the formed lumen and helps to stop bleeding. Plasma factors are actively involved in this process. If at least one of them is missing in the blood, the process of thrombus formation will be disrupted.
The von Willebrand factor is a protein component that is part of the blood and ensures adequate functioning of the hemostasis system. If it is produced in insufficient quantities, then this entails malfunctions in the coagulation process. Von Willebrand factor is a protein that makes platelets adhere to the damaged vascular wall. Factor VIII is produced in endothelial cells. Von Willebrand disease is inherited from parents to children. More often women suffer from this disorder.
Von Willebrand disease is also called angiohemophilia. It is this term that reflects the essence of pathology as much as possible, but it is rarely used.
In previous years, people who suffered from von Willebrand disease became disabled at an early age, their life expectancy was short. Now patients with such a diagnosis are able to live an almost full life, they can work, play sports.
- Von Willebrand disease classification
- Causes of von Willebrand disease
- Symptoms of von Willebrand disease
- Treatment of von Willebrand disease
- Preventive actions
Von Willebrand disease classification
Depending on the nature of the course of the disease, the following types are distinguished:
- The first type of disease is the most common. In this case, a decrease in the von Willebrand factor level is observed, but in insignificant amounts. Therefore, the work of the blood coagulation system is disrupted, but not too much. A person with this type of illness feels well. It is possible that bleeding may develop, which is difficult to stop, but it manifests itself during surgery or during dental procedures, and not by itself. In such people, bruises appear even from slight pressure on the skin.
- The second type of disease, in which the level of von Willebrand factor in the blood does not decrease, but the structure of the substance itself is disrupted. Under the influence of provocative factors on the body, sudden bleeding may develop, which can be very intense.
The third type of von Willebrand disease is the most severe pathology. Coagulation factor VIII is completely absent in the patient's blood, which entails microcirculatory bleeding and accumulation of blood in the joint cavities.
- Platelet von Willebrand disease is a pathology that should be considered separately. In this case, a gene mutation occurs in the human body, which is responsible for the platelet receptor of von Willebrand factor. It is released from active platelets and prevents them from clumping normally and attaching to the vascular wall.
Very rarely, people are diagnosed with an acquired form of the disease, which does not develop from birth, but against the background of the appearance in the blood of autoantibodies to their own tissues. Past infections and stresses, injuries can become a triggering factor. This type of von Willebrand disease most often develops in people suffering from autoimmune pathologies, cancerous tumors, and thyroid diseases.
Causes of von Willebrand disease
Willebrand disease is characterized by blood clotting disorders, which is the most important link in the hemostatic system. In this case, the blood clotting factor, which is called von Willebrand factor, is not enough in the body, or it has a number of structural disorders. This leads to the failure of the blood coagulation system, as platelets lose their ability to normal aggregation and adhesion.
Von Willebrand disease is a gene pathology. Although the disease can affect both men and women, the representatives of the weaker half of humanity suffer from this disorder more often.
Sometimes von Willebrand disease has such a mild course that a person is not even aware of its presence. In this case, bleeding (if it occurs) will be localized in the uterus, skin or gastrointestinal tract, that is, in those organs that have a developed capillary network.
If a person has the first blood group, then the pathology can have a severe course. Sometimes even ordinary nosebleeds can end very badly
Symptoms of von Willebrand disease
If bleeding develops in a healthy person, then platelets are sent to the site of damage to the vessel, which, sticking to each other, clog the existing wound. In people with von Willebrand disease, this process is impaired.
The main symptom of the disease is bleeding. They can be provoked by surgery, tooth extraction, or an injury. During bleeding, the person's condition worsens, the skin turns pale, the head begins to spin, and blood pressure may decrease. Symptoms will worsen quickly if bleeding is extensive and intense.
Children with von Willebrand disease suffer from hemorrhagic diathesis, which is especially acute after an acute respiratory viral infection. The body, which is intoxicated, reacts to this by increasing the permeability of the vascular walls, which threatens the development of spontaneous bleeding.
It is impossible to completely cure von Willebrand disease. Pathology has an undulating course, with periods of calm and exacerbation.
The symptoms of von Willebrand disease are as follows:
While taking non-steroidal anti-inflammatory drugs, bleeding of the gastrointestinal tract is often observed. Treatment with antiplatelet agents also contributes to its development. Hemorrhagic nodes and ulcerative lesions of the mucous membrane of the stomach and intestines bleed. The bleeding of the digestive system is indicated by dark feces, which takes on a tarry consistency. At the same time, its color becomes almost black. Also, the patient may vomit with blood.
- Hemarthrosis is a hemorrhage in the joint cavity. A person experiences painful sensations in the corresponding area, the functions of the joint are limited, the skin around it swells. If the bleeding is not stopped, the swelling will increase, the soft tissues will acquire a bluish tint, become tense and tight. The skin at the site of the lesion will be hot to the touch.
- In addition to hemorrhagic syndrome, people with von Willebrand disease may show signs of mesenchymal dysplasia. In this case, bleeding will have a certain localization, they will begin to happen in these places regularly.
Over time, symptoms of the disease can change. From time to time, a person feels absolutely healthy, since there are no signs of pathology at all. Many people diagnosed with von Willebrand disease do not experience any discomfort from this pathology. At the same time, other patients constantly suffer from regular bleeding, which is fatal. The quality of life of such patients will suffer from the very birth. Bleeding can be so intense that a hospital visit is required to stop it.
Symptoms of von Willebrand disease are mild:
- Nosebleeds that recur frequently.
- Menstrual bleeding in women is characterized by profuse discharge.
- Bruises appear on the skin, even with minor damage.
- Petechiae often develop on the skin.
- At the site of the injuries, extensive hematomas are formed.
If the disease has a severe course, then it will be accompanied by the following symptoms:
- The presence of blood in the urine. In this case, a person will experience pain in the lumbar region, suffer from dysuric disorders.
- After a minor injury, large bruises will appear on a person's skin. Hemorrhages swell a lot, put pressure on the nerve endings, which is painful.
- Frequent hemorrhages in the articular cavity.
- Prolonged and persistent bleeding from the gums.
- Bleeding from the nose and nasopharynx, which can lead to bronchial obstruction.
- Hemorrhage in the brain. This situation is fatal.
In severe von Willebrand disease, its symptoms are similar to hemophilia.
Von Willebrand disease is difficult to detect. It is most often diagnosed in adolescents. To make the correct diagnosis, the doctor must study in detail the family history, carefully interview the patient. The presence of a hemorrhagic syndrome and a burdened heredity make it possible to suspect this pathology.
To confirm suspicions, the doctor will prescribe the following diagnostic measures to the patient:
- All young couples who are planning a pregnancy, but at the same time are at risk, must undergo genetic tests aimed at identifying the mutated gene.
- The patient's blood is examined for von Willebrand factor activity, and its qualitative and quantitative characteristics are studied.
- A blood coagulogram and a complete blood count are performed.
- To detect hemarthrosis, an X-ray examination of the joints is shown, or their MRI and arthroscopy.
- Internal bleeding can be detected using ultrasound examination, as well as during laparoscopy.
- A fecal occult blood test is performed.
It is also possible to conduct a tourniquet and pinch test.
Treatment of von Willebrand disease
The hematologist deals with von Willebrand disease. You should tune in in advance that a full recovery cannot be achieved, since genetic abnormalities cause pathology. However, it is quite possible to improve the quality of life of patients.
The treatment is based on substitution transfusion therapy, which allows to normalize the work of all stages of hemostasis. Patients are prescribed hemopreparations that contain von Willebrand factor. This can be cryoprecipitate or antihemophilic plasma. Such treatment makes it possible to increase the production of factor VIII in the patient's body.
- If a person develops minor bleeding, then you can try to stop it with a tourniquet and a hemostatic sponge. Treatment of the wound with thrombin is also good for preventing blood loss.
- To stop bleeding, the patient may be prescribed drugs such as: antifibrinolytics, hormonal oral contraceptives, desmopressin.
- A fibrin gel may be applied to the wound surface that is bleeding.
- A plaster cast is applied to the limb with the affected joint (with the development of hemarthrosis). It is imperative to give the joint an elevated position. When the hemorrhage is stopped, the patient is prescribed UHF. A painful joint must be limited in stress. If the patient's condition is serious, then he is prescribed a puncture with pumping blood.
Desmopressin is a drug used to treat von Willebrand disease types 1 and 2. Taking this drug stimulates the body to produce factor VIII. The drug can be used both in the form of a nasal spray and in the form of injections. If therapy does not bring the desired success, then the patient is prescribed a transfusion of a plasma concentrate of the missing factor.
Tranexamic acid and aminocaproic acid are antifibrinolytic drugs. They are administered intravenously or taken orally. These drugs are prescribed for recurrent uterine bleeding, nosebleeds, and gastrointestinal bleeding.
If the disease has an uncomplicated course, then it is possible to use the drug Tranexam. In difficult cases, Tranexam is combined with Etamsilat or Dicinon.
It is impossible to prevent the development of von Willebrand disease, as it is inherited. However, you can try to minimize the risk of bleeding in different locations.
To do this, the following preventive measures must be observed:
- Inform married couples who are at risk for this disease.
- Children with an established diagnosis are subject to dispensary observation.
- Patients should be monitored regularly by their doctor.
- Care should be taken to avoid injury.
- You can not take Aspirin and other drugs that reduce the functionality of platelets.
- Surgical interventions for such patients are performed only if there are vital indications for this.
- It is imperative to lead a healthy lifestyle and eat right.
These recommendations will make it possible to avoid intra-articular and intramuscular bleeding, as well as associated complications. The sooner the diagnosis is made and treatment is started, the better the prognosis. It is unfavorable only when the disease is severe.
Video: lecture for a doctor on von Willebrand disease:
Video: von Willebrand disease in the Living Healthy program:
The author of the article: Shutov Maxim Evgenievich | Hematologist
Education: In 2013 he graduated from the Kursk State Medical University and received a diploma "General Medicine". After 2 years, completed residency in the specialty "Oncology". In 2016 completed postgraduate studies at the National Medical and Surgical Center named after N. I. Pirogov.