Von Willebrand Disease

Von Willebrand disease is extended or excessive bleeding due to deficiency of a protein called Von Willebrand factor that is a component of blood clotting process.

In such people, it takes time for the blood to clot after getting an injury. The treatment is aimed at stopping bleeding or preventing frequent episodes of bleedings. People may lead a normal and healthy life with proper treatment.

The disease is classified into 3 types:

• Type 1 - Von Willebrand factor is low, factor VIII is low and signs are mild.
• Type 2 - Von Willebrand factor does not function properly and symptoms are more significant.
• Type 3 - Von Willebrand factor is absent altogether along with low levels of factor VIII. Signs and symptoms may be severe.
• Acquired von Willebrand disease - develops later in life and it is not inherited.

Signs and symptoms of Von Willebrand disease vary from person to person. It may be mild or completely absent in some people and in others it may be severe to life-threatening.

Abnormal bleeding is the first sign of this diseases. The abnormal bleeding may be: recurrent and prolonged nosebleeds, bleeding from gums, increased menstrual cycle, excessive bleeding from a cut, blood in stool or urine, bleeding from shaving or other minor injuries.

Additionally, people with Von Willebrand disease may have easy bruising or bruises with lumps under the skin.

In women especially, this disease manifests itself as heavy menstruation along with presence of blood clot greater than 1 inch, the need to change tampons hourly, the need to use double sanitary napkins to prevent leakage and symptoms of anemia like weakness and shortness of breath.

Von Willebrand disease  is caused by an inherited defect in the gene that controls von Willebrand factor. It occurs due to defect in gene that controls this factor.Due to this, platelets (which form blood clot and stop bleeding) cannot stick together nor can they attach to the blood vessel resulting in impaired clotting formation.

The Von Willebrand factor carries factor VIII along with it. Therefore, people with this disorder have low levels of factor VIII.

Very rarely, this disease occurs later in life who do not inherit this disease (acquired).

Still, the exact cause of this defect in the gene in unknown. Some studies suggest autoimmune disorder, slow thyroid gland development or certain medications having negative effects on Von Willebrand factor.

In mild cases, it is difficult to diagnose Von Willebrand disease but in other cases, a hematologist will perform several blood tests to rule out other similar conditions like hemophilia.

The following tests may be done: assessment of medical history of patient and family, physical examination looking for signs of bleeding disorder like petechial spots (red spots on skin) and blood test which has to be done more than once due to fluctuations in blood cells.

Specific tests may be done to confirm the diagnosis, which include Von Willebrand factor antigen (this can tell if it occurred due to autoimmune disorder), Ristocetin cofactor activity (assessment of function of von Willebrand factor), factor VIII activity (level of factor VIII), von Willebrand factor multimers (evaluates structure of von Willebrand factor) and platelet function test (function of the platelets is evaluated).

Although there is no cure for Von Willebrand disease, it can be handled effectively and several treatments are used for managing its symptoms.

The common treatment options are:

• Desmopressin medication - controls bleeding by stimulating release of von Willebrand factor.
• Replacement therapy - infusion of prepared doses of concentrated blood-clotting factors containing von Willebrand factor and factor VIII.
• Contraceptives - these are helpful to control heavy bleeding during menstruation due to estrogen present in them which stimulate the activity of von Willebrand factor and factor VIII.
• Anti-fibrinolytic or clot-stabilizing medications - medications like aminocaproic acid help to slow down the disintegration of clotting factors.
• Fibrin sealants - a glue like substance injected directly at the cut to limit bleeding.

Von Willebrand Disease is genetic and therefore cannot be prevented.

Genetic counselling is required before planning to have a baby. Even if the parent has no symptoms and leads a normal life, it is possible that the child can have severe problems. By this way, the disease can be prevented from going to the next generation.

The following lifestyle tips must be taken to reduce the complications of von Willebrand disease:

• avoid taking pain relievers without the consent of a doctor,
• telling the doctor or dentist about this disorder before undergoing any procedure (if the patient knows),
• staying active physically and avoid bruising.

The main risk factor for Von Willebrand disease is a parent with the same disease. Most cases are autosomal dominant which means that an offspring has 50% chances of getting this disorder. Some cases are autosomal recessive which means in order to inherit the disease, both parents should have the abnormal gene.

Complications of this disease include anemia due to loss of red blood cells and hemoglobin (especially in women with heavy menses), swelling and pain in joints and soft tissue due to circulatory insufficiency and death due to extensive bleeding (blood loss more than 60%).