Von Willebrand Disease

Overview

Von Willebrand disease is a lifelong bleeding disorder characterized by insufficient levels of von Willebrand factor, a crucial protein for blood clotting, or by its impaired functionality.

Most individuals are born with the disease, having inherited it from one or both parents. Though present from birth, symptoms like excessive bleeding following dental work may not manifest until later in life.

While there is no cure for von Willebrand disease, management strategies and self-care practices empower individuals to maintain fulfilling, active lifestyles.

Symptoms

Many people with von Willebrand disease are unaware they have it because symptoms can be mild or nonexistent. The most common indication of the condition is abnormal bleeding.

There are three main types of von Willebrand disease, and the amount of bleeding varies from person to person based on the type and severity.

If you have von Willebrand disease, you might experience:

• Heavy or prolonged menstrual bleeding
• Excessive bleeding during surgery, dental work, or an injury
• Frequent nosebleeds lasting longer than ten minutes
• Blood in the urine or feces
• Severe bleeding during childbirth
• Easily bruised or lumpy bruises

Menstrual symptoms could consist of:

• Anaemia symptoms, such as exhaustion, weariness, or dyspnea
• The requirement to wear double sanitary protection for menstrual flow
• The necessity to change your tampon or menstruation pad more frequently than once every hour
• Blood clots in your menstrual flow that are larger than 1 inch in diameter

Contact your doctor if you have bleeding that lasts a long time or is hard to stop.

Causes

Von Willebrand disease stems mainly from an inherited abnormal gene impacting von Willebrand factor, pivotal for blood clotting. When you have low levels of this protein or it doesn’t work as it should, platelet aggregation and adhesion to vessel walls during injury are hindered, disrupting clot formation and increasing the risk of excessive bleeding.

Additionally, many individuals with von Willebrand disease exhibit low levels of factor VIII, another critical clotting protein involved in hemophilia. Unlike hemophilia, which predominantly affects males, von Willebrand disease affects both genders and typically presents with milder symptoms.

In rare instances, von Willebrand disease can emerge later in life without a genetic predisposition, termed acquired von Willebrand syndrome, often associated with an underlying medical condition.

Risk factors

The primary risk factor for von Willebrand disease is a familial history of the condition. Parents can transmit the disease gene to their offspring, although it may sporadically skip generations.

Usually, von Willebrand disease follows an “autosomal dominant inheritance” pattern, where inheriting a mutated gene from just one parent can lead to the development of the disease. If you carry the gene for von Willebrand disease, there’s a 50% chance of passing it on to your children.

The most severe form of the condition follows an “autosomal recessive” pattern, requiring both parents to pass on a mutated gene to their child for it to manifest.