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Von Willebrands Disease primarly affects the blood. It is due to a deficiency in certain clotting factors in the blood. Von Willebrands Disease is the most common hereditary bleeding disorder affecting approximately 0.1% of the population amongst all racial and ethnic groups. Von Willebrands disease is caused by a deficiency or abnormality in Von Willebrand Factor (VWF) which has an important role in blood clotting and also acts as a plasma carrier and protector of factor VIII (another blood clotting factor).VWD is an inherited bleeding disorder. Therefore there is a strong familial relationship in terms of acquring the disease. The gene for VWD is located on chromosome 12.VWD is classified into 3 types:Type 1 is inherited as an autosomal dominant (Requires only one affected parent have the trait to pass it to offspring) and is characterised by a mild reduction in VWFType 2 is also autosomal dominant and is characterised by defective assembly of VWF Type 3 is inherited as an autosomal recessive and is characterised by a severe reduction in VWF quantity The natural history of VWD depends on the severity of the disease. Some patients may only experience bleeding problems in surgery or minor trauma and otherwise may not require treatment (Type 1 and Type 2). Other patients may bleed profusely internally and externally and therefore would require more aggressive treatment. With current treatments and therapies, VWF can be managed (treatment options depend on VWD type). Treatment depends on severity of disease. Options include: DDAVP (desmopressin) - raises VWF in patients with mild VWD. Factor VIII concentrate or VWF concentrate may be used as prophylaxis (prevention) for surgery or to treat bleeding Oral Contraceptive Pill - suppress menstruation and thus may aid with excessive menstrual bleeding [1] Cotran RS, Kumar V, Collins T. Robbins Pathological Basis of Disease Sixth Ed. WB Saunders Company 1999. [2] Kumar P, Clark M. Clinical Medicine. Fourth Ed. WB Saunders, 1998.
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