Our blood clotting mechanisms, which protect us against excessive bleeding, are finely regulated and balanced, but have you ever imagined what could happen if this balance is disturbed? 

Imagine a person with such a disturbance facing something as minor as a small cut or undergoing a major surgical operation how would their body respond?

In the following paragraphs, we will explore Von Willebrand's disease, a lesser-known yet significant bleeding disorder that can deeply affect individuals' lives.

Abbreviations

• Von Willebrand disease: VWD
• Von Willebrand factor: vWF

VWD in numbers

VWD is considered the most common bleeding disorder, with an estimated 1 in every 100 of the population having the condition. However, only a small percentage develop the symptoms and become diagnosed, for example:  in the UK 16 individuals per 100,000 are diagnosed with VWD.

Although it affects men and women equally it is more prominent in women because they have an additional source of blood loss during menstruation.^1,2 

Causes and nature of VWD

Von Willebrand factor

Von Willebrand factor (VWF) is a protein produced by the cells that line our blood vessels and by the platelets, a type of cells in the blood responsible for creating blood clots to control bleeding. This protein plays a crucial role in the clotting process, helping platelets stick together and adhere to the walls of damaged blood vessels. The condition was named after the physician Erik von Willebrand, who first identified and described VWD.

It helps in 2 main functions:

• Platelet adhesion: when a blood vessel is injured vWF attaches the platelets and helps them stick to each other to form a platelet to stop the bleeding from happening
• Stabilisation of factor VIII: factor VIII is another protein that helps in clotting; vWF binds to factor 8 and reduces its clearance from the blood to make its action last longer³

So what is VWD?

Von Willebrand Disease (VWD) is a condition in which the blood loses its ability to clot properly when a blood vessel is injured. It is caused by a defect in the production or function of vWF.

It is a genetic condition meaning that an individual develops the disease when the gene responsible for VWD is transmitted from their parents.

Types

Type 1 (mild-moderate quantitative deficiency of vWF)

• Mild reduction in the level of vWF 20-50% of normal values
• The most common type represents 60-80 % of cases of VWD
• Have the mildest symptoms

Type 2 (qualitative defect of vWF)

• vWF is found in normal quantities but does not function properly
• Found in 15-30% of cases
• Type 2 has many smaller subdivisions

Type 3 (severe quantitative deficiency of vWF)

• When vWF is very little or not detected in the blood
• Found in 5-10% of people with VWD
• Causes severe symptoms^1,2

Acquired type

On a few occasions VWD is not transmitted from a parent but rather acquired later in life in some individuals with certain medical conditions, examples are:

• Some autoimmune diseases:
  • Systemic lupus erythematosus (SLE)
  • Rheumatoid arthritis

• Congenital heart diseases
• Some malignancies
• Drugs
• Griseofulvin
• Ciprofloxacin
• Valproic acid⁴

Symptoms

Easy bruising

A minor trauma in any part of the body can cause an out-of-proportion bruise; sometimes the patient can’t even remember the cause. It can be large dark blue or purple and raised

Bleeding from different sites

• Epistaxis or bleeding from the nose: frequent and stops after a long time (takes more than 10 minutes), and usually needs intervention like packing
• Bleeding gum: it can happen on its own or after an injury like when brushing the teeth
• Blood in stool or urine

Heavy long menstrual bleeding

A period is said to be heavy when:

• Contains large blood clots ( larger than 1 cm in diameter)
• Lasts longer than 8 days
• It soaks a sanitary pad every 2 hours on multiple days or uses more than one pad at a time

Bleeding after miscarriage and childbirth

Women with VWD do experience significant bleeding after birth or miscarriage, it should always be considered in mind and special adjustments must be made.

Bleeding after medical procedures

• Dental extractions
• Circumcision
• Blood sampling
• Any other surgical procedure or cut through the skin^5,6

Complications

• Anaemia: from continuous blood loss especially in females with heavy cycles
• Bleeding into the muscles or joints: like the knee, causes swelling and pain and can cause deformities
• Hepatitis c infection: can be caused by frequent transfusions^7,8

Diagnosis

The diagnosis is usually reached when the history, examination, and blood investigations suggest VWD.

History and examination

When a person presents with symptoms suggestive of VWD the doctor always starts with questions about the nature of the condition, the symptoms and the family history and then performs a clinical examination to search for the signs to try and rule out the cause.

Lab tests

• Blood coagulation (clotting) tests

 to investigate the causes of bleeding symptoms are found to be normal in most cases.

• The VWF antigen level (vWF: Ag)

This test is used to measure the quantity of vWF in the blood.

• Other blood tests

 to assess the function of vWF and to determine the type of VWD after diagnosis.⁹

Treatment

Replacement therapy

• It aims at replacing the deficiency in vWF
• Factor VIII can also be given in combination with vWF
• Prophylactic therapy (protective therapy) reduces the frequency and severity of episodes
• Patients can develop allergies to the components of the drug, but fortunately, newer products were manufactured to avoid this issue

Desmopressin

• The most prescribed drug for the treatment of VWD
• Desmopressin stimulates the production of vWF to increase its level within the body
• It can be administered in many forms like injections into the veins, injections under the skin or in the form of nasal spray
• The response to the drug depends on the type of VWD the patient has

Hormonal therapy

Birth control pills like combined hormonal contraceptives (CHC) and levonorgestrel intrauterine device (IUD) are frequently used to control heavy menstrual cycles and to reduce their duration in women not desiring pregnancy.

Tranexamic acid and other antifibrinolytics

• This class of drugs acts to prevent the breakdown of a protein called fibrin, an essential component of a blood clot. It therefore increases the clotting ability of the blood and reduces bleeding
• It is considered an alternative to hormonal therapy in women wanting to get pregnant¹⁰

Special considerations and advice

• Painkillers: Some painkillers may worsen the condition because they have another role as blood thinners and the doctor must be consulted to switch the type of the drug. They include:
  • Aspirin
  • Ibuprofen
  • Naproxen sodium
• Always inform your doctor that you have VWD: Especially at dental visits and before performing surgical procedures
• Avoid vigorous exercises: that may lead to trauma and bruises
• Pregnant women: should tell their doctor about their condition to make his preparations way ahead to be ready for emergencies⁶

Summary

Von Willebrand disease (VWD) is a genetic bleeding disorder caused by a reduction or dysfunction of the Von Willebrand factor (vWF), leading to impaired blood clotting and causing the symptoms of easy bruising, prolonged bleeding and heavy menstrual cycles in women. However, with the appropriate management and precautions, the patient can lead a normal life.

FAQs

Is VWD curable?

No, currently there is no cure for VWD, but it can be effectively managed with the appropriate medications.

Can women with VWD have kids?

Yes, women affected by VWD can have kids; but special precautions must be made by multiple healthcare teams to ensure the health of the mother and her baby.

Is VWD the same as hemophilia?

No, VWD and Hemophilia are two separate entities. In VWD the defective protein is vWF whereas in Hemophilia the defect is in factor VIII (Hemophilia A) and factor IX (Hemophilia B). However, they both cause symptoms related to clotting dysfunction.

Are there any dietary recommendations or restrictions?

People with VWD are advised to consume food rich in iron and vitamins to replace the loss and avoid anaemia and luckily there are no specific dietary restrictions.

Can a person having VWD donate their blood?

Like most blood diseases an individual with VWD is often considered unsuitable to donate blood. However, in certain conditions, they may be able to donate their other blood products like plasma.