Von Willebrand Disease: Causes, Symptoms, Treatment and Cost

A shortage or defect in von Willebrand factor (VWF), a protein that assists in the clotting of the blood, is the root cause of von Willebrand disease, often known as VWD. VWD is an inherited bleeding illness. It is the most prevalent kind of hereditary bleeding condition, and it can afflict people of any race or ethnicity as well as either gender.

There are three forms of the Von Willebrand disease, which are as follows:

• Type 1: This is the mildest form of VWD and affects about 80% of people with this condition. People with type 1 VWD have reduced amounts of von Willebrand factor, but their bodies still produce enough for normal blood clotting.
• Type 2: This is the most common form of VWD and affects about 15% of people with this condition. People with type 2 VWD have reduced amounts or abnormal forms of von Willebrand factor which leads to problems with blood clotting.
• Type 3: This is the most severe form of VWD and affects about 5% of people with this condition. People with type 3 VWD have very low levels or no von Willebrand factor which can lead to serious complications such as spontaneous internal bleeds (i.e., into muscles) as well as excessive external bleeds (i.e., from cuts).

The condition known as von Willebrand disease (VWD) is brought on by either an absence of or an anomaly in the protein known as von Willebrand factor. This factor is what makes it possible for blood to clot.

VWD can be inherited from either parent and there are several different types, each of which is caused by a different genetic mutation.

The most common symptoms of Von Willebrand Disease include:

• Easy bruising
• Excessive bleeding from cuts or injuries
• Heavy menstrual periods in women
• Prolonged nosebleeds
• Blood in the urine or stool
• Excessive bleeding during or after surgery
• Joint pain due to internal bleeding
• Fatigue due to anaemia caused by excessive blood loss.

• Prevention of VWD is mostly focused on reducing the risk of injury and monitoring for signs and symptoms of bleeding.
• Individuals can reduce their risk by avoiding contact sports, wearing protective gear during sports or other activities, and following recommended safety guidelines when using sharp objects.
• Regular doctor visits are also important for managing symptoms and identifying any potential complications.
• In addition, individuals should use caution when taking medications or supplements that may interfere with normal clotting processes.

Diagnosis of VWD involves:

• Physical examination: The physical examination for Von Willebrand Disease includes checking for signs of bleeding, such as nosebleeds, easy bruising, heavy menstrual periods, and excessive bleeding from cuts or other wounds. The physician might also look for indications of anaemia, which is caused by sustained blood loss.
• Platelet aggregation test: A platelet aggregation test is a diagnostic tool used to measure the ability of platelets in the blood to clump together and form a clot. The test may be used as part of a workup for patients suspected of having von Willebrand disease.
• Genetic tests: These tests analyse a person’s DNA to look for mutations in the genes that are associated with von Willebrand Disease. The Ristocetin Cofactor Assay is the test that is utilised the vast majority of the time in order to detect von Willebrand Disease. In certain cases, the diagnosis of von Willebrand Disease can only be confirmed or a form of the disease identified by doing further genetic testing.

• The most common complications associated with VWD include excessive bleeding, easy bruising, nosebleeds, heavy menstrual periods, and prolonged bleeding after surgery or dental procedures.
• People with VWD may also be at an increased risk of developing anaemia due to chronic blood loss.
• In rare cases, people with VWD may be at an increased risk of developing other health conditions such as heart disease or stroke due to prolonged and untreated bleeding.

• Ginger: Ginger is known to improve the absorption of nutrients and circulation in the body, which is beneficial for people with Von Willebrand Disease.
• Turmeric: Turmeric contains curcumin, an antioxidant that helps reduce inflammation and can be beneficial for people with Von Willebrand Disease.
• Sesame Seeds: Sesame seeds are known to be rich in vitamins and minerals such as magnesium, manganese, copper, zinc and iron, which are beneficial for people with Von Willebrand Disease. Soak a handful of sesame seeds overnight and add them to smoothies or salads for an extra boost of nutrition.
• Aloe Vera Juice: Aloe vera juice is known for its anti-inflammatory properties which can help reduce symptoms associated with Von Willebrand Disease such as bleeding gums or nosebleeds. Drink a glass of aloe vera juice every day for best results.
• Amla: Amla is a powerful antioxidant that helps detoxify the body and boost immunity which can be beneficial for people with Von Willebrand Disease as it helps reduce inflammation and improve blood flow throughout the body

For people with Von Willebrand Disease, it is important to eat a balanced diet that includes plenty of fruits and vegetables, lean proteins, whole grains, and healthy fats.Eating foods that are high in fibre yet low in salt is another way to help alleviate symptoms and improve health.

Foods that should be avoided include fried foods, processed meats, full-fat dairy products, fatty cuts of meat, and processed snacks. Additionally, people with Von Willebrand Disease should avoid consuming alcohol as it can worsen symptoms and increase the risk for complications.

• Lifestyle changes: Lifestyle changes may include avoiding certain medications (such as aspirin), eating a balanced diet rich in vitamin K, avoiding alcohol and smoking, and reducing stress levels. Additionally, patients may need to monitor their activities and reduce physical exertion if they tend to bleed more easily after engaging in strenuous activities.
• Medications: For more severe cases of VWD, doctors may prescribe medications such as desmopressin acetate or antifibrinolytic agents to help increase the amount of von Willebrand factor in the body and reduce bleeding episodes.
• Factor replacement therapy: This is the most common method used to treat Von Willebrand Disease. This involves replacing the missing or deficient von Willebrand factor with a healthy version of the protein.
• Clotting factor concentrates: These concentrates contain concentrated forms of clotting factors such as Factor VIII, which can help replace missing or deficient von Willebrand factors in patients with Von Willebrand Disease.
• Blood transfusions: In rare cases where other treatments have not been successful in controlling VWD symptoms, doctors may recommend a blood transfusion to replace lost blood cells or platelets due to excessive bleeding episodes.

Von Willebrand Disease is usually managed by a haematologist, who is a doctor that specialises in the diagnosis and treatment of disorders related to the blood and blood-forming tissues.

• Desmopressin: It is the most commonly used medicine for acute bleeding episodes due to its ability to activate the release of von Willebrand factor from endothelial cells.
• Antifibrinolytics: Antifibrinolytics such as aminocaproic acid and tranexamic acid can help to reduce bleeding episodes by inhibiting the breakdown of fibrinogen into fibrin, which is necessary for clotting.
• Clotting factor concentrates: These can be used for severe cases of Von Willebrand Disease or when other treatments have failed.The factor VIII concentrate, the factor IX concentrate, and the von Willebrand factor concentrate are a few examples.
• Antiplatelet agents: These drugs help to prevent the formation of clots by inhibiting platelet aggregation and adhesion. Examples include aspirin, clopidogrel.

Recovery time varies depending on the individual and their treatment plan, but most people can expect to see improvements in their symptoms within a few weeks or months.

• The treatment for von Willebrand disease is often effective in controlling the symptoms, but it is not a cure.
• Treatment can help to reduce bleeding episodes and make them less severe when they do occur, but long-term control of the disorder requires ongoing management.
• In certain instances, such as with von Willebrand disease type 3, the advantages of therapy may be long-lasting or even permanent.

Specific post-operative guidelines may include:

• Close monitoring for signs of bleeding or fluid loss during and after surgery.
• Assessing for any allergic reactions to the factor replacement therapy used preoperatively or during surgery.
• Administering factor replacement therapy prior to any invasive procedure, including dental procedures or other surgeries, as well as during and after any procedure requiring blood loss or trauma.
• Providing appropriate nutrition and hydration postoperatively to aid in recovery from surgery and maintain homeostasis in patients with VWD who have undergone major surgical procedures or prolonged hospitalizations.
• Administering prophylactic antibiotics when indicated to prevent postoperative infections in VWD patients who are immunocompromised due to their disease state or other medical conditions such as HIV infection, diabetes mellitus, etc..
• Ensuring that all medications prescribed postoperatively do not interfere with clotting factors or interact negatively with factor replacement therapies used preoperatively or during surgery.

• The cost of Von Willebrand Disease treatments in India can vary greatly depending on the type and severity of the disease, as well as the specific treatment needed.
• Generally, medications such as desmopressin, antifibrinolytics, and factor VIII concentrates can range from Rs.500-Rs.5000 per month. Surgery for more severe cases may cost anywhere from Rs.50,000-Rs.2 lakhs or more depending on the complexity of the procedure and other factors.
• In addition to these costs, there may be additional costs related to laboratory tests, medical checkups, hospitalisation fees and other associated costs which can add to the overall expense of treating Von Willebrand Disease in India.

• Treatments for Von Willebrand disease can have a wide variety of adverse effects, and these effects might change depending on the medication that is being administered.
• Common side effects include nausea, vomiting, diarrhoea, rash, and fatigue.
• There is also a possibility of experiencing itching, headaches, dizziness, and low blood pressure among the less typical adverse effects. In extremely unusual instances, severe allergic responses might potentially take place.

If you are suffering from any complications relating to Von Willebrand disease then you should consult a doctor nearby as they can cause complications like excessive bleeding, easy bruising, nosebleeds, etc. in which treatment course can range from a few months to years depending on the severity of the situation.