Delayed diagnosis common in von Willebrand disease, Japan study shows
Delay reached nearly 3 years; some cases may still go unrecognized
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Many people with von Willebrand disease (VWD) may experience bleeding for years before being diagnosed, and some cases may still go unrecognized, according to a study in Japan, where the diagnostic delay reached nearly three years.
The study, “Exploratory Claims-Based Assessment of Diagnosed and Potentially Undiagnosed von Willebrand Disease in Japan,” was published as a letter to the editor in the journal Haemophilia.
Most patients had at least 1 bleeding problem before VWD diagnosis
In VWD, the body cannot properly form blood clots due to the lack or dysfunction of a blood-clotting protein called von Willebrand factor, leading to abnormally heavy and prolonged bleeding. Although this disease is relatively common, many patients remain undiagnosed or receive a diagnosis only after years of unexplained bleeding.
In this study, researchers analyzed health insurance claims from the DeSC Healthcare database, which includes information on about 17.8 million people in Japan. They looked for people with a confirmed diagnosis of VWD and examined their medical records before the disease was diagnosed.
Among 4,160 people with medical records suggesting VWD, including suspected cases, 749 had a confirmed diagnosis. Of these, 391 had enough information in the database for the researchers to study how long it took for them to receive a diagnosis.
The researchers selected 14 bleeding problems that could be early signs of VWD or reasons doctors may suspect the disease. These included frequent nosebleeds, iron deficiency anemia (a shortage of red blood cells or hemoglobin, the oxygen-carrying protein in red blood cells, caused by a lack of iron), blood in the urine, heavy menstrual bleeding, unusual bruising, and bleeding after tooth removal.
Most people with VWD (92.2%) had at least one of these bleeding problems before their diagnosis. The estimated median time from the first of these conditions to a confirmed diagnosis of VWD was 33.7 months, meaning that half of the patients waited more than about 2.8 years for a diagnosis.
These results highlight the potential under-recognition of VWD in Japan and underscore the need for earlier recognition, structured referral pathways and broader implementation of diagnostic strategies for patients with bleeding-related presentations.
Iron deficiency anemia was the most common problem recorded before VWD was diagnosed, followed by problems with blood clotting, a tendency to bleed easily, nosebleeds, anemia caused by blood loss, and blood in the urine.
“These findings suggest that many patients who ultimately receive a VWD diagnosis have already interacted with the healthcare system for potentially relevant bleeding or haematological manifestations well before diagnostic confirmation,” the researchers wrote.
The researchers then examined more than 2.1 million people who had at least one of the 14 bleeding problems. They estimated how often these people later received a confirmed diagnosis of VWD and used this pattern to build a model estimating how many people with VWD may remain undiagnosed.
Based on claims data, the researchers estimated that about 1,232 people in Japan had a confirmed diagnosis of VWD in 2024. Using the model, they also estimated that another 1,059 people with bleeding-related conditions could have undiagnosed VWD. Women accounted for most of both the diagnosed and potentially undiagnosed cases.
The researchers concluded that many people with VWD experience years of bleeding symptoms before receiving a diagnosis. However, the estimate of undiagnosed cases was based on a statistical model rather than confirmed diagnoses, so it should be considered exploratory and will need confirmation in future studies using long-term patient data.
“These results highlight the potential under-recognition of VWD in Japan and underscore the need for earlier recognition, structured referral pathways and broader implementation of diagnostic strategies for patients with bleeding-related presentations,” the researchers wrote.
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