Von Willebrand disease: Causes, Symptoms, Risk Factors, Diagnosis, Treatment, Prevention and Complications

Von Willebrand disease is a chronic bleeding disorder that prevents your blood from clotting properly. Von Willebrand factor malfunction or low levels of the protein, which promotes blood clotting, are signs of the disorder.

The majority of people who have the illness are born with it after either one or both of their parents passed it on to them. Warning signs, such as a lot of bleeding after a dental procedure, may take years to appear.

Von Willebrand's disease has no known cure. The majority of people with this illness may, however, lead active lives with therapy and self-care.

Causes Of Von Willebrand disease

Von Willebrand factor is a blood clotting protein that is controlled by a defective gene that is frequently inherited.

If you have low quantities of this protein, if it isn't working as it should, small blood cells called platelets are unable to adhere to one another properly or naturally bind to the blood vessel walls once an injury has occurred. This interferes with the coagulation process and occasionally leads to uncontrollable bleeding.

A huge number of people are affected by von Willebrand disease in addition to having low amounts of factor VIII, another protein that promotes clotting.

Another inherited clotting disorder involving factor VIII is haemophilia. But unlike haemophilia, which mostly affects men, von Willebrand disease affects both sexes equally and is often milder.

Very rarely, people who did not inherit a defective gene from their parents can eventually get von Willebrand disease. This acquired von Willebrand syndrome is assumed to be caused by an underlying medical condition.

Symptoms Of Von Willebrand disease

Many people might not know they have von Willebrand disease since it has little or no symptoms. The most frequent symptom of the illness is unusual bleeding.

There are three main types of the illness. Each person's level of bleeding varies depending on the nature and seriousness of the disease.

If you have von Willebrand disease, you might experience:

• Significant bleeding following a procedure, at the dentist, or as a result of an injury
• Bleeding from the nose frequently and for more than five minutes
• Heavy or prolonged menstrual bleeding
• Huge amounts of blood are shed during labour and delivery
• Blood in the faeces or urine
• Plain or lumpy bruises

Here are some examples of menstruation signs and symptoms:

• Your menstrual flow contains blood clots bigger than 1 inch in diameter.
• Changing your menstruation pad or tampon more than once every hour
• The need for using two layers of sanitary protection during menstruation
• Anaemia symptoms, such as exhaustion, fatigue, or shortness of breath

Risk factors  Of Von Willebrand disease

The major risk factor is having a family history of von Willebrand disease. Parents pass on the defective gene to their offspring. Rarely can generations skip the sickness.

The disorder, which is an "autosomal dominant inherited" one, often requires a defective gene from just one parent to cause symptoms. If you carry the gene for von Willebrand disease, you have a 50% chance of passing it on to your children.

The most severe form of the condition is "autosomal recessive," which requires that both of your parents pass a defective gene on to you.

Diagnosis  Of Von Willebrand disease

It can be difficult to identify mild forms of von Willebrand disease because bleeding happens frequently and normally doesn't indicate a disease in most people. If your doctor suspects you have a bleeding problem, they could recommend a haematologist.

A thorough physical examination, a review of your medical history, a look for bruises or other signs of recent bleeding, and a von Willebrand disease test are all likely to be performed by your doctor.

Your physician will likely also advise the blood tests listed below:

• The Von Willebrand factor antigen: This determines the level of von Willebrand factor in your blood by measuring a specific protein.
• Antigen of the Von Willebrand factor: By measuring a specific protein, indicates the amount of von Willebrand factor in your blood.
• Activity of the Von Willebrand factor: The effectiveness of the von Willebrand factor in your clotting process can be assessed using a variety of assays.
• Clotting action of factor VIII: This reveals whether your factor VIII levels and activity are abnormally low.
• Multimers of the Von Willebrand factor: This analyses the protein complexes, molecules, and molecular breakdown of von Willebrand factor in your blood. The type of von Willebrand disease that you have can be determined using this information.

The same person's test results may change over time due to conditions like stress, exercise, infection, pregnancy, and medication. So you might have to run some tests again.

Your doctor could advise testing for family members to find out if von Willebrand disease runs in your family if you have it.

Treatment  Of Von Willebrand disease

Although there is no treatment for von Willebrand disease, therapy can help stop or avoid bleeding episodes. Your medical care is dependent upon:

• The nature and severity of your disease
• How you responded to previous therapies
• Your additional medical conditions and prescribed medication

Your doctor might suggest one or more of the following therapies if you want to strengthen blood clots, raise your von Willebrand factor, or lessen excessive monthly bleeding:

• Desmopressin: DDAVP is the name of the drug's injectable form. This artificial hormone lessens bleeding by causing your body to create more of the von Willebrand factor that is stored in the lining of your blood vessels.
• For von Willebrand disease, desmopressin (DDAVP) is usually administered as the first line of treatment. It can be injected prior to straightforward surgical operations to help halt bleeding. You might receive a trial run of desmopressin to test if it works for you.
• Other forms of treatment: These include intense infusions of von Willebrand and factor VIII blood coagulation factors. Your doctor might suggest something else if DDAVP isn't an option for you or doesn't work.
• The Food and Drug Administration approved the use of a genetically modified (recombinant) von Willebrand factor product as a replacement therapy for patients 18 years of age and older. Because recombinant factor is created devoid of plasma, it can reduce the risk of a viral infection or allergic reaction.
• Oral Contraception: In addition to preventing pregnancy, these drugs can aid in managing heavy menstrual bleeding. Oestrogen from birth control pills can boost the activity of von Willebrand and factor VIII.
• Medicines that prevent blood clots: Anti-fibrinolytic medications like tranexamic acid (Cyklokapron, Lysteda) and aminocaproic acid (Amicar) can slow bleeding by delaying the dissolution of blood clots. Doctors typically prescribe these drugs before or after a surgical procedure or tooth extraction.
• Medicines applied to cuts: Tisseel, a fibrin sealant, is applied to a wound to lessen bleeding. This is applied using a syringe much like glue. Furthermore, there are over-the-counter medications available to stop nosebleeds.
• If the disease is mild, your doctor might only suggest therapy if you're having an operation, getting dental work done, or if you've just had a trauma, such as a car accident.

Prevention  Of Von Willebrand disease

If you would like to start a family and von Willebrand's disease runs in your family, you might want to think about genetic counselling. If you carry the gene for von Willebrand disease, you can still pass it on to your children even if you don't exhibit any symptoms.

Complications  Of Von Willebrand disease

Rarely, von Willebrand disease can cause uncontrollable, life-threatening bleeding. additionally, adverse symptoms of von Willebrand disease include:

• Anaemia: Heavy menstrual flow can lead to anaemia from an iron deficiency.
• Swelling and pain: This might be brought on by abnormal bleeding in the joints or soft tissue.

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