Miscellaneous

Von Willebrand Disease: Symptoms, Treatment, Diagnosis

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Von Willebrand Disease (angiohemophilia) - Genetic blood pathology caused by reduced activity or lack von Willebrand factor (VWF). Meets the disease with a frequency of 1-2 cases per 10 000 people. And among hereditary hemorrhagic diathesis, it is the third.

Von Willebrand disease may be associated with hypermobility of joints and ligament weakness, increased Skin extensibility, connective tissue dysplasia, heart valve prolapse (Ehlers - Danlos syndrome).

What it is?

Von Willebrand disease - an inherited blood disorder characterized by the occurrence of occasional spontaneous bleeding, which are similar to the bleeding in hemophilia. Cause of bleeding - bleeding disorder due to deficient activity of von Willebrand factor, which is involved in the adhesion of platelets to collagen and protects factor VIII from proteolysis.

Causes

One part of the human body hemostatic system is von Willebrand factor (vWF), performs two basic functions:

  • triggers adhesion (sticking) of platelets to the site of injury of blood vessel;
  • stabilizing clotting factor VIII, circulating in the blood.
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Different genetic disorders cause vWF synthesis defect, whereby it is produced in insufficient quantities (in some cases, it is generally impossible synthesis). And possible variant of the disease, in which the amount of PV optimally, but the protein - is defective and can not perform its functions. As a result, vWF deficiency suffers from various sources of 0.1 to 1% of the population. However, often the disease is mild and can be generally not diagnosed.

Classification

There are several clinical types of von Willebrand disease - Classic (I type); variant forms (II type); severe (III type) and platelet type.

  1. In the most common (70-80% of cases) I type of disease is a slight or moderate decrease in plasma vWF (sometimes slightly less than the lower limit of normal). Spectrum oligomers is not changed, but the form is marked Vincheza constant presence superheavy multimers VWF.
  2. When type II (20-30% of cases) there are quality defects and decreased activity of von Willebrand factor, the level of which is within the normal limits. The reason for this may be the lack or shortage of middle and high oligomers; excessive affinity (affinity) to the platelet receptor, decrease ristomycin-cofactor activity, disturbance of binding and inactivation of factor VIII.
  3. In type III von Willebrand factor in plasma almost completely absent, the factor VIII activity is low.

There is also a platelet type of the disease, which is characterized by increased sensitivity to high-molecular platelet receptor multimers of von Willebrand factor.

symptoms

Symptomatology of von Willebrand's disease is very diverse: from minor bleeding episodes to massive, debilitating, leading to severe blood loss.

Symptoms characteristic of von Willebrand's disease:

  • heavy, prolonged or recurring spontaneous bleeding after minor surgery, tooth extraction;
  • subcutaneous hematoma appearing after minor traumatic effects or spontaneously
  • bleeding for more than 15 minutes after a minor injury or spontaneous recurrent bleeding after 7 days or more after the injury;
  • hemorrhagic rash on the skin;
  • severe anemia;
  • intense, prolonged menstruation;
  • spontaneous nosebleeds longer than 10 minutes or require medical intervention due to the intensity;
  • Blood in the stool in the absence of gastrointestinal pathologies capable of provoking the development of gastro-intestinal bleeding.

Increased bleeding often observed in children, decreasing as they grow older, there is an alternation in the subsequent exacerbations and remissions.

Diagnostics

Diagnostics for von Willebrand disease require the indispensable participation of specialists of Hematology. Diagnosis at clinic level or child health clinic is not possible due to lack of opportunities laboratories of these institutions to conduct specific diagnostic tests, enzyme immunoassay technology. The doctor suggests the disease when interviewing relatives of the patient's examination and consideration of information from the history.

Moreover, the available tests vary in sensitivity and diagnostic significance. Therefore, we developed an algorithm prospective examination of the patient.

  1. First studied with all coagulation clotting parameters, including bleeding time. Analyzes can be performed in his clinic. Upon detection of pathological deviations of the patient is sent to the hematology center.
  2. To identify the specific type of the disease, defect qualitative comparison impaired hand use aggregation capacity under the influence of ristocetin with normal - when exposed to collagen, thrombin, ADP, adrenaline.
  3. The basic method for detecting a blood factor VIII reduce the amount of activity is to determine the patient's platelets treated with formalin in the reaction solution with ristocetin.
  4. Using techniques reveal kollagensvyazyvayuschey impaired functional capacity factor VIII, specific type of disease.

In the diagnosis of related mucosal lesions are needed:

  • examination otolaryngologist;
  • ezofagogastroduodenoskopicheskoe study;
  • colonoscopy (examination of the bowel).

For the treatment it is important to identify vascular lesions in the form of crimps, angioma, extensions up to 2 mm, which promote bleeding.

How to treat von Willebrand disease

The basis of the treatment of von Willebrand's disease is replacement transfusion therapy. It is aimed at the normalization of all parts of the hemostasis. Patients administered gemopreparaty containing von Willebrand factor - antihemophilic plasma and cryoprecipitate. Substitution therapy enhances the biosynthesis of the scarce factor in the body.

  1. Stop minor bleeding will compressive bandage, hemostatic sponge, thrombin treatment of the wound.
  2. Hemostatic effect have drugs "Desmopressin" Antifibrinolytics, hormonal oral contraceptives for uterine bleeding.
  3. On bleeding wound cause fibrin gel.
  4. If hemarthrosis is applied to the leg plaster splint is applied cold and give the elevated position of the limbs. In the future, patients designate UHF and limit the load on the joint. In severe cases, joint puncture under local anesthesia.

To treat blood disease type 1 and 2 employ "Desmopressin" - a drug stimulating release of vWF into the systemic circulation. Its release in the form of a nasal spray and a solution for injection. When the drug is ineffective, conduct replacement therapy Plasma vWF concentrate.

By Antifibrinolytics include aminocaproic acid and tranexamic. They are administered intravenously or taken orally. Formulations based on these acids are most effective for uterine, gastrointestinal bleedings and nasal. "Tranexam" - the basic tool in the treatment of mild forms of VWD. In severe cases, the drug is used in combination with specific gemostatiki - "etamzilat" or "Dicynonum".

prevention

Prevention of the disease is to comply with caution (from injury), rejection of admission drugs that violate the blood clotting properties, as well as timely treatment to the doctor and the beginning treatment.

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