Von Willebrand Disease – Symptoms and Causes

Overview

Von Willebrand disease affects the blood’s ability to clot properly. This is due to low levels of von Willebrand factor or problems with how this protein works.

People with this condition need specific products and services to manage their symptoms and prevent complications.

Medical treatments include:

• Desmopressin (DDAVP): A synthetic hormone that boosts von Willebrand factor levels.
• Clotting Factor Concentrates: Replace missing proteins in the blood.
• Antifibrinolytic Medications: Help stabilize blood clots.

Support services available include:

1. Genetic counseling for families.
2. Specialized dental care with bleeding prevention.
3. Physical therapy programs designed for people with bleeding disorders.

Regular checkups with hematologists who specialize in bleeding disorders are essential. Some patients also benefit from participating in support groups where they can connect with others facing similar challenges.

Signs of Bleeding

People with von Willebrand disease may experience various bleeding symptoms. Many individuals have mild signs or no noticeable symptoms at all. The severity of bleeding depends on the type and seriousness of the condition.

Common bleeding signs include:

• Prolonged bleeding from cuts, injuries, or after dental work
• Nosebleeds lasting more than 10 minutes
• Blood appearing in urine or stool
• Easy bruising or bruises that appear lumpy

For women, menstrual bleeding can be particularly troublesome with:

• Large blood clots (bigger than 1 inch across) during periods
• Need to change pads or tampons hourly
• Requiring double sanitary protection
• Developing anemia symptoms (tiredness, fatigue, breathing difficulty)

After childbirth, women with this condition may experience heavier than normal bleeding. The bleeding symptoms vary greatly between patients based on the specific type of von Willebrand disease they have.

Most people with milder forms may only notice these signs during significant injuries or surgical procedures, while those with more severe types might experience unprovoked bleeding episodes.

When to See a Doctor

If you notice bleeding that continues for an extended period or is difficult to control, contact your healthcare provider right away. This could be a sign of a medical issue that needs attention.

Causes

Von Willebrand disease typically stems from genetic factors that affect a protein called von Willebrand factor. This protein plays a crucial role in blood clotting.

When a person has this disease, they either have low levels of this protein or the protein doesn’t work properly.

The clotting process becomes impaired because platelets (small blood cells) cannot stick together correctly or attach to blood vessel walls after an injury. This leads to bleeding that may be difficult to control.

Many people with this condition also have reduced levels of factor VIII, another important clotting protein. While this might sound similar to hemophilia, von Willebrand disease:

• Affects both males and females equally
• It is usually less severe than hemophilia
• Has different inheritance patterns

In some uncommon cases, people develop what’s called acquired von Willebrand syndrome later in life without having inherited it from parents. This rare form typically results from other underlying health conditions rather than genetic factors.

The genetic form of the disease is passed down through families, with children having a 50% chance of inheriting it if one parent carries the abnormal gene.

Risk Factors

Von Willebrand disease is mainly passed down through families. If your parents have this condition, you may also get it. Here are the key risks:

• Family History: Having relatives with von Willebrand disease is the biggest risk factor.
• Inheritance Pattern: The condition is usually passed down in an autosomal dominant manner.
• Genetic Chance: If one parent has the disease gene, children have a 50% chance of inheriting it.
• Severe Form: The most serious type requires both parents to pass on the mutated gene (autosomal recessive).

In some rare cases, the disease may skip a generation, making family history harder to track.

Complications

Von Willebrand disease can sometimes lead to serious health issues. In rare cases, uncontrolled bleeding may become life-threatening.

Other problems may include:

• Anemia due to heavy menstrual periods causes iron deficiency.
• Joint and tissue problems, including swelling and pain from bleeding in these areas.

Prevention

If you’re planning to have children and have a family history of von Willebrand disease, genetic counseling may be helpful. You can pass the gene to your children if you carry it, even without symptoms yourself.

Talking with a genetic counselor can help you understand your risks. It can also help you make informed decisions about family planning.