Von Willebrands Disease

A detailed Summary of Von Willebrands Disease

Blood is carried throughout the body within a network of blood vessels (arteries, veins, and capillaries). When our tissues are injured, the blood vessel is disrupted, and we bleed through the holes in the blood vessel wall. Normally, we stop bleeding through this process-the formation of the platelet plug and the formation of the blood clot. This is called "hemostasis." A protein in our blood, termed Von Willebrand factor (or vWf), causes the platelets to bind to the damaged blood vessel wall (platelet adhesion). Therefore if Von Willebrand factor is absent, the ability to clot at the site of injury is impaired.

Von Willebrand disease is probably the most common hereditary bleeding disorder and may occur in up to 1 percent of the population. Patients with Von Willebrand disease have diminished production of Von Willebrand factor or produce a molecule that does not function normally--hence, their platelets do not adhere properly when blood vessels are injured, and it takes longer for bleeding to stop. In some patients, factor VIII (anti-haemophilic factor that helps blood clot) is also reduced, and blood clotting is impaired. In patients with haemophilia the primary problem is decreased or absent factor VIII, while Von Willebran

Symptoms are highly variable, even in patients within the same family. Most people with this disorder have very mild symptoms. However, in other individuals life-threatening bleeding may occur after extensive injuries or operations. Thus, the recognition of this condition is very important. Other than specific laboratory tests for Von Willebrand factor, the clinical history may be the most important way to determine who has Von Willebrand disease since the usual hemostasis screening tests may be normal in mild forms of Von Willebrand disease.

The "factor VIII molecular complex and the individual components are important to blood clotting (factor VIII) and platelet adhesion (Von Willebrand factor).

Von Willebrand disease is sufficiently common that occasionally both mother and father may have the disorder (left side). In such situations, offspring have a 50 percent chance of inheriting the abnormality from each parent and therefore a 25 percent chance of inheriting the abnormality from both parents. If the offspring have inherited from both parents, then they have severe Von Willebrand disease that is characterised by very low or undetectable levels of Von Willebrand factor with more severe bleeding symptoms. One reason for this discrepancy between recessive (asymptotic heterozygotes) and dominant (symptomatic heterozygotes) is that the level of Von Willebrand factor may be affected by other factors, suc

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Category: Science