Von Willebrand Disease
The need
One bleeding disorder has been a special focus of Hemorare from the beginning: von Willebrand disease or VWD. It is caused primarily by the absence, deficiency or defect of a protein known as von Willebrand factor (VWF), which is important in the clotting process. It is named after the Finnish physician who first described the disorder in 1926.
It is an autosomal dominant congenital disorder; that is, it can be passed on to offspring by either parent and it affects males and females equally (though it may be more likely to be noticed among women due to heavy menstrual bleeding and abnormal bleeding during childbirth).
There are three types of von Willebrand Disease, depending on the degree of absence of the protein and/or its efficacy (Type 1 is the most common and least severe; Type 3, resulting from extremely low levels or absence of VWF, the least common but most severe). Many people with Type 1 VWD experience very mild symptoms.
Von Willebrand Disease symptoms include
- Easy bruising
- Spontaneous, excessive and/or long-lasting nosebleeds
- Excessive bleeding following an injury, surgery or dental work
- Bleeding in joints (Type 3)
- Heavy or prolonged menstrual bleeding (Menorrhagia)
- Subsequent anemia
There are three types of von Willebrand Disease, depending on the degree of absence of the protein and/or its efficacy (Type 1 is the most common and least severe; Type 3, resulting from extremely low levels or absence of VWF, the least common but most severe). Many people with Type 1 VWD experience no or very mild symptoms.
Von Willebrand Disease symptoms include
- Easy bruising
- Spontaneous, excessive and/or long-lasting nosebleeds
- Excessive bleeding following an injury, surgery or dental work
- Bleeding in joints (Type 3)
- Heavy or prolonged menstrual bleeding (Menorrhagia)
- Subsequent anemia
VWD is described as the most common of the bleeding disorders, with a prevalence of approximately 1% (1 in 100) – significantly greater than the definition of “rare”, i.e. 1 in 2000 in the population. But this can be somewhat misleading, because not all people with low levels of von Willebrand Factor suffer symptoms that are clinically significant or cause enough concern to prompt a visit to the doctor. Thus, in the US, between 2012 and 2023, only 33,456 people were seen at Hemophilia Treatment Centers (HTCs) for VWD in the United States, indicating a reported prevalence of approximately 1 case in 10,000 persons (with about two-thirds being women and girls).
Worldwide date also reflect a very low prevalence with high variance from 1.7 in 10,000 (UK) to well under 1 in 10,000. Some of this variability might reflect ethnic/race differences in genetic prevalence, but also clearly has to do with differences in infrastructure, availability and access of services and awareness. (and notably significant disparities in the numbers of specialized healthcare centers where accurate diagnoses are more likely to be made).
In any case, the numbers most certainly reveal significant under-diagnosis everywhere. Symptoms can be missed or mis-ascribed by health-care professionals or dismissed by the sufferer as “normal” (e.g. heavy menstrual bleeding, frequent nose-bleeds). Under-diagnosis can have serious consequences, including iron deficiency and anemia resulting from untreated excess bleeding. According to CDC estimates, in the US it takes an average of 16 years from the onset of symptoms for a woman to be diagnosed with VWD.
Von Willebrand disease is an example of a bleeding disorder for which effective treatments exist but which are not always known, accessible or adequately convenient for patients. Our mission is to improve this situation.
estimated genetic prevalence worldwide, making vWD the most prevalent inherited bleeding disorder
of symptomatic cases may remain undiagnosed (<116,000 reported worldwide)
of women with VWD experience heavy menstrual bleeding
years since the first description by Erik von Willebrand (1926–2026)
What Hemorare does
Hemorare is dedicated to developing and bringing to the market solutions for underdiagnosed inherited bleeding disorders, with a focus on von Willebrand disease. We look forward to increasing awareness of inherited bleeding disorders, bearing in mind that symptomatic patients may present with subtle manifestations that are not immediately recognized or investigated.
We hope to help change perspectives on this common condition and encourage a joint effort across often siloed medical disciplines to ensure swift assessment and appropriate treatment.