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Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).
Features include: Menorrhagia, Bruising susceptibility, Epistaxis, and Low platelet count (thrombocytopenia).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 1 | Low platelet count (thrombocytopenia) |
Von Willebrand disease (VWD) is a congenital bleeding disorder. Symptoms may only become apparent on hemostatic challenge, and increased or prolonged bleeding may only be identified after recurrent exposure to hemostatic challenges. Thus, it may take some time before a bleeding history becomes apparent. Individuals with VWD primarily manifest excessive mucocutaneous bleeding (e.g., bruising, epistaxis, ear, nose, and throat bleeding, oral bleeding, heavy menstrual bleeding) and do not tend to experience musculoskeletal bleeding in the absence of trauma unless the factor VIII clotting (FVIII:C) level is low, as can be seen in individuals with type 2N or type 3 VWD. Type 1 VWD typically manifests as mucocutaneous bleeding. However, the severity can range from mild to severe.
Source: GeneReviews — "Von Willebrand Disease"
VWF function has not been fully characterized.
Von Willebrand disease 2 is associated with mutations in the VWF gene on chromosome 12.
Type 1 VWD (autosomal dominant). VWD-causing variants resulting in plasma VWF levels lower than 30 IU/dL tend to be more penetrant. Other autosomal dominant types (2A, 2B, and 2M). VWD-causing variants are often fully penetrant, particularly for type 2A and type 2B VWD.
Source: GeneReviews — "Von Willebrand Disease"
International guidelines on the diagnosis of von Willebrand disease (VWD) have been published .
VWD should be suspected in probands with the following clinical and laboratory findings.
Clinical findings
Source: GeneReviews — "Von Willebrand Disease"
Mild-to-moderate hemophilia A and platelet-type von Willebrand disease (PT-VWD) can be difficult to distinguish phenotypically from von Willebrand disease (VWD) .
Table 4.
Genetic Disorders in the Differential Diagnosis of von Willebrand Disease
Gene | Disorder | MOI | Phenotype | Diagnosis
Source: GeneReviews — "Von Willebrand Disease"
Genetic testing for VWF is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for von Willebrand disease 2 has been reported in the published literature.
No approved treatments are currently available for von Willebrand disease 2. The disease remains an area of unmet medical need.
Gene therapy approaches for von Willebrand disease 2 have been reported in the published literature.
Clinical practice guidelines for von Willebrand disease (VWD) have been published .
To establish the extent of disease and needs in an individual diagnosed with VWD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 5.
Von Willebrand Disease: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
| • Ensure complete modern VWD eval has been performed whenever possible prior to invasive procedures or other hemostatic risks.
Assess history of bleeding.
Assess VWF levels.
Assess FVIII levels.
| Very old or historical diagnoses of VWD w/o recent laboratory confirmation should not be relied upon in treatment planning.
VWF inhibitor testing (when available) in those w/type 3 VWD or suspected presence of inhibitors |
CBC; iron studies incl ferritin | To assess for anemia iron deficiency to identify persons who should have iron replacement
| Joint muscle eval (as would be done for persons w/hemophilia A) | In those w/low FVIII levels or clinical suspicion
| Gynecologic eval for those w/heavy menstrual bleeding /or ovarian hemorrhage (See also .) | To assess for other anatomic contributors to bleeding to coordinate mgmt w/hormonal therapies, IUD, procedures if needed
| Endoscopic eval for anatomic causes of bleeding, incl angiodysplasia in those w/suspected GI bleeding |
| Screening for ...
Source: GeneReviews — "Von Willebrand Disease"
1 trial found
To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.
Table 8.
Von Willebrand Disease: Recommended Surveillance
System/Concern | Evaluation | Frequency
| • Assessment at hematology treatment center w/experience w/bleeding disorders
Determination of frequency of bleeding, factors causing incr bleeding, treatment efficacy tolerability
CBC iron levels
VWF levels
Assess for VWD inhibitors in those at risk (type 3 VWD)
| • Annually, particularly in those receiving treatment
Every 2-3 years in those w/o bleeding not on treatment
| • Assessment of joint scores mobility by PT
Musculoskeletal ultrasound when applicable
| In those w/more severe VWD /or low FVIII levels, or w/evidence of musculoskeletal bleeding, assess on same schedule as hemophilia A.
| Gynecologic eval | As needed for females w/heavy menstrual bleeding or other reproductive tract bleeding
| Gastroenterology eval for iron deficiency, anemia, or signs of GI bleeding | At time of active bleeding per gastroenterologist recommendation
| Assessment by specialist in hepatitis B /or hepatitis C (usually hepatologist) HIV infection (usually infectious disease specialist); surveillance is disease specific may incl monitoring viral load, antiviral titer, liver imaging or biopsy, liver function tests, hepatocellular carcinoma surveillance, blood counts, eval o...
Source: GeneReviews — "Von Willebrand Disease"
Estimated prevalence: 1-9 in 1,000,000 (Rare).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily industry-sponsored.
208 publications have been identified in PubMed for von Willebrand disease 2. Research spans Basic Science / Preclinical (22%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (19%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 42 | 22% |
Disease patterns and progression | 40 | 21% |
Research summaries | 37 | 19% |
Clinical study results | 30 | 16% |
Testing and diagnosis research | 25 | 13% |
Patient case studies | 9 | 5% |
New treatment approaches | 7 | 4% |
Other research | 1 | 1% |
Tosetto A (2026). [PMID: 41496702](https://pubmed.ncbi.nlm.nih.gov/41496702/). *Haematologica*. [Review / Meta-Analysis]
Agayev R (2026). [PMID: 42137743](https://pubmed.ncbi.nlm.nih.gov/42137743/). *Gastroenterology Res*. [Diagnostic / Biomarker]
Salazar E (2026). [PMID: 42140677](https://pubmed.ncbi.nlm.nih.gov/42140677/). *Clin Lab Med*. [Review / Meta-Analysis]
Seidizadeh O (2026). [PMID: 41453393](https://pubmed.ncbi.nlm.nih.gov/41453393/). *Seminars in thrombosis and hemostasis*. [Basic Science / Preclinical]
Zhang J (2026). [PMID: 41183610](https://pubmed.ncbi.nlm.nih.gov/41183610/). *Journal of molecular and cellular cardiology*. [Basic Science / Preclinical]
Wang P (2026). [PMID: 41587237](https://pubmed.ncbi.nlm.nih.gov/41587237/). *IEEE Trans Biomed Eng*. [Basic Science / Preclinical]
Constantinescu-Bercu A (2026). [PMID: 41587100](https://pubmed.ncbi.nlm.nih.gov/41587100/). *Blood*. [Clinical Trial Publication]
Seidizadeh O (2026). [PMID: 41559284](https://pubmed.ncbi.nlm.nih.gov/41559284/). *Sci Rep*. [Epidemiology / Natural History]
Reventun P (2026). [PMID: 41537263](https://pubmed.ncbi.nlm.nih.gov/41537263/). *Arterioscler Thromb Vasc Biol*. [Basic Science / Preclinical]
Eikenboom J (2026). [PMID: 41743270](https://pubmed.ncbi.nlm.nih.gov/41743270/). *Research and practice in thrombosis and haemostasis*. [Diagnostic / Biomarker]
Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning von Willebrand disease 2
Updated Sep 7, 2026
A case report details comprehensive dental management under general anesthesia for a pediatric patient with type 3 von Willebrand disease. This study highlights the challenges and considerations in treating dental issues in patients with bleeding disorders.
A recent study highlights persistent gingival bleeding after dental scaling as a potential diagnostic indicator for von Willebrand disease. This finding could enhance early detection and management of the condition.
FDA classifies the von Willebrand factor assay into class II, establishing special controls to ensure safety and effectiveness. This classification aims to enhance regulatory oversight for devices related to von Willebrand disease.
If you’re looking for a sign that biotech’s IPO renaissance remains on track then the pair of upsized Nasdaq listings on Friday morning is a good place to start. | "We want to develop those programs as far as we can ourselves,” Seaport CEO Daphne Zohar told Fierce. The IPO funds are expected to help finance a phase 3 study in Glanzmann thrombasthenia, as well as an ongoing phase 2 trial in another bleeding disorder called Factor VII deficiency. Meanwhile, Hemab wants to push its monovalent antibody, HMB-002, through a phase 1/2 study for von Willebrand disease, another genetic disorder that impacts blood clotting. Seaport Therapeutics Hemab Therapeutics IPO biotech IPO Biotech Zohar co-founded Karuna Therapeutics, the neuroscience biotech bought by Bristol Myers Squibb for $14 billion to acquire the schizophrenia drug that would hit the market as Cobenfy. When asked by Fierce why Seaport hadn’t also opted for a Big Pharma acquisition, Zohar suggested that companies try and keep both options open. Both depression-focused Seaport Therapeutics and clotting company Hemab Therapeutics had been priming investors earlier this week to expect IPOs of around the $180 million range. But the companies significantly overshot their targets. Boston-based Seaport sold nearly 14.2 million shares for its offering—flying past the 11.8 million shares that the company had been expecting as recently as Monday. With the shares priced at $18 apiece, it means the biotech will rake in $254.9 million in gross proceeds from the IPO. Seaport’s stock began trading on the Nasdaq this morning under the ticker “SPTX.” It was joined by another biotech entrant in the form of Hemab. Like Seaport, Hemab had been banking on an IPO of around $180 million, but the end result has come out above $300 million, according to an April 30 release.
Seaport will use the funds for its neuropsychiatric drug pipeline, while Hemab will focus on bleeding disorder medicines. Seaport will use the funds for its neuropsychiatric drug pipeline, while Hemab will focus on bleeding disorder medicines. ... The value of IPOs so far this year suggests the sector is winning the battle against macroeconomic policy shifts in the US. Credit: Billion Photos/Shutterstock.com. Seaport Therapeutics and Hemab Therapeutics have both outlined pricings for their respective initial public offerings (IPOs), adding to an already busy month for biotechs making the public jump. Sutacimig, also known as HMB-001, is set to command most of the IPO funds. Around $120m will be put towards the asset’s clinical development in the two bleeding disorders. Around $60m will be used to advance clinical development of HMB-002, the biotech’s monovalent antibody in Phase I/II development for the subcutaneous prophylactic treatment of Von Willebrand Disease. GlyphAllo, also known as SPT-300, has been designed using Seaport’s Glyph platform, which the biotech says overcomes bioavailability and first-pass metabolism limitations. These hurdles have historically plagued treatments targeted against neuropsychiatric disorders. Seaport’s platform employs the lymphatic system’s natural lipid absorption and transport process to bypass the liver, which should also help reduce hepatotoxicity. Around $121m of the IPO raise will help fund GlyphAllo through a Phase IIb trial (NCT07065240) and into Phase III development. Seaport, a biotech developing treatments in the neuropsychiatric space, is offering 11.8 million shares priced between $16 and $18 each on the Nasdaq. If the IPO settles in the midpoint of this range, the biotech estimates net proceeds of $183.5m, which could rise by a further $27.9m based on the underwriters’ option.