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Von Willebrand disease
Description
Von Willebrand (VWF) is a blood protein that binds with plasma and aids in clotting, deficiency or dysfunctioning of Von Willebrand factor causes Von Willebrand disease. It is an inherited hematological disorder in which blood is unable to clot. There are three types of Von Willebrand disease:
- Type 1: affected individuals have low VWF levels, it is the mildest and common type and may or may not be associated with haemophilia.
- Type 2: characterized by dysfunctional VWF, with subtypes 2A, 2B, 2M and 2N
- Type 3: it is the rarest and the most severe type. In this the mutated gene is passed on from both the parents
Causes
It is a genetic disorder, mostly the gene is inherited from the parents, characterized by deficiency or non functional Von Willebrand factor, a clotting factor. In rare cases it is due to gene mutation. If it is acquired it cannot be passed on from the affected individual to the offspring.
Risk factors
Risk factors of Von Willebrand Disease include:
- Family history
- Drugs
- Autoimmune disorders etc.
Symptoms
If you notice your child or yourself experiencing the following symptoms, it may be indicative of the presence of vWd:- Bleeding profusely on minor cuts
- Bleeding excessively in minor procedures such as; dental procedures
- Heavy and prolonged bleeding during menstruation
- Easy bruising
- Frequent nose bleeds that do not stop easily
- Blood in urine and stools
- Anemia, tired-ness and fatigue
Diagnosis
Many people show symptoms of other minor bleeding disorders, therefore making it difficult to differentiate from vWd.
Your doctor may take a detailed history and do relevant examinations.
Following tests are done to reach the diagnosis:
- Von Willebrand factor antigen – it measures the amount of VWF protein in our body.
- Ristocetin cofactor activity – it measures how good VWF works in the clotting factor.
- Factor VIII clotting activity – this test checks the activity of Factor VIII.
- Von Willebrand factor multimers – it evaluates the structure of VWF in blood.
Management
The aim of the treatment is to increase the Von Willebrand factor and decrease bleeding.
The following are used in the medication:
- Desmopressin – it is a synthetic hormone which stimulates our body to make more VWF and it is used as a first line treatment.
- Replacement therapies- this includes transfusion of concentrated blood clotting factors.
- Anti-fibrinolytic medication- they help bleeding by making the blood clot stable.
- Oral Contraceptives – these help in controlling heavy menstrual periods
When to consult a doctor?
Visit your doctor if you are experiencing prolonged bleeding which is difficult to stop.
Available Medicine for Von Willebrand disease
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