Blood Disorders » von Willebrand Disease
von Willebrand Disease
Functions of von Willebrand Factor
When a cut or bruise occurs, the platelets found in the blood plug the hole in order to check the bleeding. With the aid of fibrinogen, calcium and vitamin K, the platelets form a mesh to hold the plug in place and close the wound. With passage of time, the mesh hardens to form a scab that protects the cut until it heals.
von Willebrand factor’s role here is to help the platelets stick to the wound. It is also vital in transporting the much needed clotting factor – factor VIII – to the site of action. The failure of von Willebrand to perform any or both of these functions may lead to the condition called von Willebrand Disease.
Types of von Willebrand Disease
von Willebrand disease is classified into Type 1, Type 2, and Type 3. One more aspect about von Willebrand is that unlike haemophilia, it affects both girls and boys equally.
• Type1is the most common and the mildest form of von Willebrand disease. It is also highly likely that a patient of type 1 may go undiagnosed for his entire life time. It is less apparent even with smaller wounds and one may take note of the medical condition only when the bleeding fails to stop in the event of a surgery, trauma or when a tooth has been pulled out.
• Type 2 is associated with an abnormality occurring to von Willebrand factor. It is further classified into Type 2A (characterized by smaller multimers) and Type 2B (caused due to the sticking of von Willebrand factor to the platelets, leading it to clump together, thereby causing a reduction in their actual numbers).
• Type 3 is characterized by very low von Willebrand factor and factor VIII in the blood.
• There is one more type of von Willebrand disease and it is called the Platelet-type or Pseudo. It is quite similar to the Type 2A, the difference being the fact that here the defect is with the platelets and not the von Willebrand factor. .
Causes & Symptoms
von Willebrand Disease is a genetic disorder which a child inherits from his/her parents. The faulty gene leading to type 1 & 2 may be inherited from any of the parents, while in type 3 the child usually gets it from both the parents. In the latter case, the child may develop serious symptoms even when the parents appear to be normal humans.
The common symptoms include,
• Unstopping or prolonged menstrual bleeding.
• Bleeding of gums, nose or from the mucous lining of the gastrointestinal system.
• Excessive bleeding after a surgery, tooth pulled out or from normal cuts.
Diagnosis & Treatments
The existence of von Willebrand Disease can be diagnosed using any of these tests - factor VIII level test, von Willebrand factor antigen test, ricocheting cofactor activity test, von Willebrand factor multimers test, and platelet function test – on medical advice. As the factor levels can vary with time, the patient may have to undergo these tests more than once, and that will be specified by the doctor.
The common treatment for von Willebrand Disease is the intranasal or intravenous medication of desmopressin. It temporarily increases the von Willebrand factor level in the blood. But this treatment is ineffective against type 2A & 2B.
Humate p, a medicine derived from the human plasma, is used against type 3 (and sometimes 2A & 2B). In some cases, type 1 patients also may need a dose of humate p in situations such as major surgeries or trauma.
Ladies experiencing prolonged menstrual bleeding are sometimes given a controlled dose of birth controlled pills. But such a treatment is done strictly on a doctor’s advice.
To conclude, if your child experiences an unexplained or excess bleeding, don’t waste time in consulting a specialist. Remember, it is very important to find out early if he/she is suffering from any form of von Willebrand Disease. It will help the doctor to treat the disease more efficiently and effectively.