Von Willebrand Disease

A. How many suffer from the disease? Any particular groups/geography?

The amount of people suffering from this disease is significant which are 1 in 100 to 100,000 people (1). About 1% of the whole world’s population suffers from this disease (2). There is not one gender that it takes affect on particularly or ethnic group. It affects men and woman equally as well as any group of people (3).

B. Did you come across any other names for the disease, gene or protein? List them.

Other names that this disease is denoted are angiohemophilia, vascular pseudohemophilia, von Willebrand disorder or von Willebrand factor deficiency, type 1, type 2 or type3 (4).

C. What are the symptoms?

Common symptoms of von Willebrand disease are extremely long excessive

Many genetic diseases are the result of a protein not doing its job or doing its job incorrectly. What does the protein whose malfunction is responsible for causing the disease do when functioning normally? Be SPECIFIC with your answer. Any technical terms, jargon or medical vocabulary should be accompanied by an explanation or definition not containing technical terms. Your explanation should make sense to a high school student. ***Make sure you carefully examine the resources provided for your specific genetic disease in the ‘How To’ link above***

Von Willebrand factor is the protein that allows for the forming of blood clots that will seal off broken blood vessels and form a clot that will slow down or stop bleeding. If an abnormality of this protein occurs then the sticking of platelets does not happen which then does not allow them to stick to the broken blood vessels and clot them.

E. Explain how the decreased function of the protein gives rise to the symptoms of the disease. Your explanation to the extent possible should have all the linkages between the failure of the protein and symptoms of the disease. Again, any scientific jargon, technical terms etc. must be

Desmopressin is a common treatment used by women to stop extensive bleeding during their period and also can be used before a small surgery it comes in an injection form or nasal spray, which causes a stimulation of blood vessels to release von Willebrand factor protein; which in like part (d) giving a person this treatment will allow them to clot faster and not bleed out just because of a small procedure for example, done by the dentist. (Mayo). Another treatment is replacement therapies, which are infusions of blood-clotting factors found in von Willebrand factor the only way these will be advised to be used is when Desmopressin does not work. (Mayo). Contraceptives can also be used as a treatment because they are used for excessive bleeding during periods of women. There are different forms of contraceptives like pills, injections and progesterone (Mayo). Anti-fibrinolytic contain aminocaproic acid and tranexamic acid allows for clots to stay in place once they have attached to the blood vessel wall (Mayo). Fibrin sealants are used to patch up areas where a minor cut has occurred to stop the ongoing bleeding. These treatments are all used to come up with the same final product which is to clot blood and stimulate the production of von Willebrand