Genetic diseases

Von Willebrand disease

Willebrand disease

von Willebrand disease Photo Willebrand disease - a genetic blood disorder characterized by episodic spontaneous bleeding, similar to bleeding in hemophilia.Type of autosomal dominant inheritance.The acquired form of the disease is extremely rare.

In healthy people, in case of bleeding, platelets (small blood platelets) promptly sent to the open hearth and bleeding to stop it stick together.In the presence of human von Willebrand disease, the blood due to the absence or lack of it in a special protein loses function of the normal clotting.This protein called von Willebrand factor by which the blood can clot

Causes vWD

Willebrand disease is most commonly transmitted by autosomal dominant, in other words, is a hereditary disease and is the most common form of congenital bleeding disorders.Most often, the disease is mild and equally affects both women and men.The prevalence of one case per thousand

types of von Willebrand disease

There are three types of the disease:

1 type.In this case, th

e disease is associated with loss of von Willebrand factor that is the cause of medium and weak in severity of bleeding.Severity of bleeding depends on what kind of protein was lost.In about 75% of patients have type 1 is a disease in which treatment is often not necessary.

2 type.This type occurs in the event of inactivity or insufficient activity of von Willebrand factor when present in the blood, which is a cause of weak or medium in severity of bleeding.

3 type.This is the most rare type of the disease, characterized by a complete absence or a very small amount of von Willebrand factor that is causing a very severe bleeding.In this type of disease in humans after surgery or injury can develop a very dangerous bleeding and anemia.

von Willebrand disease can both worsen over time, and to remain at the same level

Symptoms of von Willebrand disease

The main symptoms of this disease are extensive bleeding, the severity of which different people can be different.Severity of hemorrhagic syndrome varies from very mild, with occasionally observed slight bruising and nosebleeds, heavy to very very dangerous option with long very frequent heavy bleeding of different localization, formation of large hematomas and hemorrhages in internal organs and soft tissues.Sometimes there may be bleeding into the joints.

symptoms of mild forms of the disease: bleeding gums, frequent nosebleeds, severe blood loss during menstruation, heavy bleeding after surgery or injury, the occurrence of bruises for no apparent reason.

Symptoms of more severe forms include all of the above in addition to the following: the appearance of blood in the urine impurities (hematuria), even after minor injuries bruises, bloody stools or dark resinous;observed intraarticular hemorrhage (rare symptom), causing swelling, difficulty of movement and pain.The most severe considered uterine and gastrointestinal bleeding

diagnosis of von Willebrand disease

the diagnosis of this disease may be some difficulties becausewith milder forms of the disease bleeding open no more than in otherwise healthy people.Usually in such cases, the person notices nothing until the development of sudden heavy bleeding after surgery, trauma, or during a visit to the dentist.

In the case of a person suspected poor blood clotting, the doctor must find out how frequently observed bleeding and how strong they are.If it is suspected von Willebrand's disease, are appointed by the following studies: genetic testing (helps to establish the existence of irregularities in the structure of von Willebrand factor), measured blood clotting time, an analysis to identify the activity of the von Willebrand factor or analysis of the level of its activity.The most informative is the quantitative determination of the patient's plasma FV

Treatment of von Willebrand disease

Treatment of the disease depends on the type, frequency of bleeding, and the potential for severe bleeding.

When diagnosed with a mild form of von Willebrand disease is necessary to carry out the following recommendations:

- During childbirth, surgery and trauma, to prevent bleeding, you should take the recommended medications

- Avoid the use of non-steroidal anti-inflammatory drugs like ibuprofenAspirin and

- If possible, avoid taking antiplatelet agents (Klopidorel etc.), and anticoagulant drugs (heparin, warfarin, etc.)

When diagnosed with severe von Willebrand disease is strictly prohibited receiving anticoagulant drugs.In this form of the following treatments:

- Held replacement therapy drugs, contain von Willebrand factor

- In order to facilitate the cessation of bleeding is shown receiving this drug as Desmopressin

- to stop bleeding at the wound applied drugs such as thrombin powder or fibrin glue

In the case of a severe form of von Willebrand disease in order to prevent bleeding and to remove the need to comply with higher safety precautions.In order to prevent bleeding into joints and muscles should lead an active life + maintain normal body weight.However, it should avoid contact sports (football, hockey, martial arts and so on.), During the occupation that there is a high risk of injury.

Prevention and treatment of von Willebrand disease in the home

First, we should avoid taking disrupts the normal process of blood clotting and increase the risk of intestinal and gastric bleeding drugs, which include:

- Preparations containing in its composition salicylates (analogs of aspirin), which are part of the majority of medicines for cough, as well as drugs like Pepto-Bismol and Alka-Seltzer

- These common non-steroidal anti-inflammatory drugs like naproxen, ibuprofen and aspirin

In case of bad blood clotting as an analgesicmeans the most safe to take acetaminophen (Tylenol and others.), under whose influence the likelihood of gastrointestinal bleeding is significantly reduced.People with von Willebrand disease should avoid taking anti-platelet (Clopidogrel and so forth.) And anticoagulants (heparin, warfarin), drugs.

recommendations in severe von Willebrand disease are as follows:

- It is mandatory to maintain adequate its growth body weight (obesity increases several times the load on the joints, thereby contributing to the emergence of bleeding)

- For weight control, maintaining muscle flexibilityprevent damage to the joints and muscles, you need to lead an active life

- The patient must learn to recognize the onset of bleeding on the secondary features, so, over time, a person can accurately detect bleeding in the joint, or muscle

- must learn to do yourself and / or yourchild injection of von Willebrand factor.Children older than ten years, it is already possible to start to learn to help themselves on their own as soon as possible the ability to make a self-injection helps to avoid complications and significantly speeds up the treatment.

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