Overview on Von Willebrand Disease

A lifelong blood disease that does not allow the formation of blood clots and causes prolonged bleeding is called Von Willebrand Disease. This disease is hereditary, which means that it is passed on to the child at the time of birth from either the mother or the father or from both.

Von Willebrand factor is a protein that is present in the blood to help with the formation of blood clots. Blood clotting is a process in which the proteins present in the blood combine to form a barrier at the opening of a wound site on the skin to stop it from bleeding. The absence or extremely low levels of this protein causes the blood to not form clots that lead to heavy and continuous bleeding at the site of a small injury.

Symptoms of Von Willebrand Disease

The signs and symptoms of this blood disorder vary from one individual to another. For some, there could be no symptoms in the initial years and signs of this disease may appear in adulthood, while for others, the symptoms could appear in childhood itself. The severity of this disease varies from person to person, as for some, there could be mild or no symptoms, while others may have severe bleeding problems.

Common symptoms of this disease are:

    • An injury that does not stop bleeding
    • Excessive bleeding after a surgery
    • Excessive gum bleeding after a dental procedure
    • Bleeding from the nose for more than 10 minutes
    • Easy bruising
    • Long and heavy menstrual cycles
    • Heavy bleeding during labor and delivery

In women, some symptoms may indicate Von Willebrand Disease:

    • Larger menstrual blood clots (more than 1 inch in diameter)
    • Requiring hourly change of tampon or sanitary pad
    • Requirement of strong sanitary protection against the menstrual flow
    • Having anemic symptoms such as tiredness, shortness of breath, and prolonged fatigue.

Causes of Von Willebrand Disease

Generally, Von Willebrand disease is caused because of the presence of an abnormal gene in the blood which controls the Von Willebrand factor in the blood itself. This factor is responsible for the formation of protein which helps in the clotting of blood. The low levels or absence of this protein in the blood causes the platelets to not stick together to form a barrier at the opening of a wound which would stop the bleeding. This can cause uncontrolled bleeding.

People with Von Willebrand disease also have another blood disorder: the low levels or lack of another protein-building factor called factor VIII. This causes hemophilia, which is another inherited blood clotting disorder. This disorder is usually found in males. Whereas, Von Willebrand disease affects males and females alike. This disorder is passed on from the parents, irrespective of the gender of the baby.

Very rarely, Von Willebrand disorder is developed in individuals late in life because of a medical condition. In this condition, the disorder is acquired and not inherited from the parents and is known as acquired Von Willebrand syndrome. It has similar symptoms.

Why is Von Willebrand Disease more common in women?

Von Willebrand disease is equally found in males and females. However, it is most frequently diagnosed in women because of the presence of apparent symptoms of the disease during menstruation, pregnancy, and childbirth.

Menorrhagia (excessive menstrual bleedings) is the most apparent symptom of Von Willebrand disease. The presence of this disease is prevalent in women with menorrhagia.

The symptoms of this disease are slow in some individuals. In males, the symptoms may appear very late, which causes late detection. However, in females, the first sign of this disease may appear when they reach puberty and experience heavy and prolonged menstrual bleeding lasting more than 7 days. Thus, the diagnosis is faster, and it is said that females are more prone to this disease than men.

Diagnosis of Von Willebrand Disease

The doctor will ask about personal and family history of bleeding to determine if a person has Von Willebrand disease. The doctor will also look for any unusual bruises or other symptoms of recent bleeding to conduct blood tests to see how the blood clots. The tests will reveal the number of clotting proteins in the blood, as well as whether or not they are functioning effectively. Because certain drugs can induce bleeding even in people who don’t have a bleeding issue, the doctor will inquire about any recent or usual medications that may have caused or exacerbated bleeding symptoms.
The doctor may even run some tests to understand the level of Von Willebrand factor in the blood, if the Von Willebrand factor is functioning well, low levels of factor VIII in blood, and the type of Von Willebrand factor in the blood.

Treatment of Von Willebrand Disease

Although there is no cure for Von Willebrand Disease, there are safe and effective therapies available for all kinds of the condition. Von Willebrand Disease treatment differs, based on the disorder’s subtype and severity.

    • Minor bleeding, such as nosebleeds, bruises, and cuts, may not require medical attention.
    • Desmopressin acetate, a medication that induces the release of VWF stored in blood vessel walls, can be used to treat people with mild to moderate VWD and trauma-induced or spontaneous bleeding episodes.
    • Patients who do not react to desmopressin medication or with more serious problems may need to be treated with concentrated versions of Von Willebrand factor and factor VIII. This treatment is known as replacement treatment. This treatment is named for the fact that it replaces the proteins in the blood that are faulty or absent.

Medications that impact blood clottings, such as aspirin, aspirin-containing medicines, non-steroidal anti-inflammatory drugs (NSAIDs), and blood thinners like warfarin and heparin, should be avoided by people with Von Willebrand disease.

Risks factors of Von Willebrand Disease

A family history of Von Willebrand disease is the most important risk factor. The disorder gene is passed down from generation to generation. Very rarely it has been observed to have skipped a generation.

The condition is commonly transmitted as an autosomal dominant disorder, which means only one defective gene from one parent is enough for the child to have it. If the Von Willebrand disease gene is present in an individual, there is a 50% chance that it will pass on to his/her offspring.

“Autosomal recessive” is the most severe type of this disease, which means the defective gene causing this disease was passed on to the individual from both of his/her parents.

Complications of Von Willebrand Disease

Von Willebrand disease can occasionally induce uncontrolled bleeding, which can be fatal. Other Von Willebrand disease complications include:

    • Severe bleeding accompanied by pain and swelling
    • Anemia and iron deficiency in the blood, because of excessive bleeding
    • Low levels of hemoglobin and red blood cells, causing low oxygen levels in the body
    • Heavy and prolonged menstruation accompanied by larger blood causing which may cause females to lose a lot of blood, requiring blood transfusions
    • Pregnancy problems because of anemia

Prevention of Von Willebrand Disease

The Von Willebrand Disease is passed on to generations because of the mutated genes causing this disease, making it non-preventable. The gene can be passed to the next generation, even if there are no evident symptoms. This is because the symptoms and severity of the disease vary from person to person.
However, it can be managed by:

    • Not consuming blood-thinning medicines, such as aspirin, and other medicines like ibuprofen (nonsteroidal anti-inflammatory drugs)
    • Taking care of oneself and avoiding injuries
    • Informing the doctors and healthcare providers about the disease
    • Informing the near and dear ones about the disease and taking necessary steps if an emergency occurs

Conclusion

Von Willebrand disease is a blood clotting disorder that prevents the formation of blood clots. This disease may only be diagnosed through a blood test. It is not preventable because it is caused by a defective gene that is passed onto an individual from one or both parents. It is advised to individuals suffering from Von Willebrand disease to not consume aspirin, as it may make the blood thinner, causing continuous bleeding in case of an injury.

FAQs

Is Von Willebrand disease life-threatening?

No, Von Willebrand disease is not a life-threatening disease. It does have complications involved, but those vary from person to person. At times, people  spend    their entire life without having a single episode that would indicate the presence of a defective gene causing this disease.

By what earliest age can Von Willebrand Disease be diagnosed?

The VWD can be diagnosed in most men by the age of 10, however, it can be diagnosed in only 50% of women by the age of 12.

Does this disease impact the ability of an individual to donate blood?

Yes, a person suffering from this disease becomes ineligible for donating blood.

References

https://rarediseases.org/rare-diseases/von-willebrand-disease/

https://www.ijpsonline.com/articles/von-willebrand-disease-an-overview.html

https://www.mayoclinic.org/diseases-conditions/von-willebrand-disease/symptoms-causes/syc-20354978#:~:text=Von%20Willebrand%20disease%20is%20a,t%20perform%20as%20it%20should.

https://medlineplus.gov/genetics/condition/von-willebrand-disease/#inheritance

https://www.cdc.gov/ncbddd/vwd/facts.html

https://www.bleedingdisorders.com/about/von-willebrand-disease/women

https://www.mayoclinic.org/diseases-conditions/von-willebrand-disease/diagnosis-treatment/drc-20354984

https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/v/von-willebrand-disease-vwd.html

https://cancer.osu.edu/for-patients-and-caregivers/learn-about-cancers-and-treatments/cancers-conditions-and-treatment/benign-blood-diseases/von-willebrand-disease/prevention