Overview
Pseudo-von Willebrand disease (also called platelet-type von Willebrand disease, or PT-VWD) is a rare inherited bleeding disorder that affects how platelets — the tiny blood cells that help form clots — work together with a protein called von Willebrand factor (VWF). Unlike classic von Willebrand disease, where the problem lies in the VWF protein itself, pseudo-von Willebrand disease is caused by a change in the platelet surface receptor called GPIbα. This faulty receptor grabs onto VWF too tightly, which causes large clumps of platelets to form and be removed from the bloodstream too quickly. The result is a shortage of both platelets and the largest, most effective forms of VWF in the blood. People with this condition tend to bleed more easily and for longer than normal. Common symptoms include easy bruising, frequent nosebleeds, heavy menstrual periods, and prolonged bleeding after cuts, dental work, or surgery. Symptoms can range from mild to more significant depending on the person. Treatment focuses on managing bleeding episodes and preparing for surgeries or procedures. Platelet transfusions are often the preferred treatment because they replace the faulty platelets. Desmopressin (DDAVP), which is commonly used in classic von Willebrand disease, can actually make symptoms worse in this condition and is generally avoided. Working closely with a hematologist is essential for safe management.
Key symptoms:
Easy or unexplained bruisingFrequent or prolonged nosebleedsHeavy or unusually long menstrual periodsBleeding that takes a long time to stop after cuts or injuriesExcessive bleeding after dental procedures or surgeryLow platelet count (thrombocytopenia) found on blood testsBleeding into joints or muscles in more severe casesProlonged bleeding after childbirth
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
7 eventsMedical University of Vienna — PHASE2
Hemab ApS — PHASE1, PHASE2
Hemab ApS
Vonvendi: FDA approved
For use in adults (age 18 and older) diagnosed with von Willebrand disease (VWD) for routine prophylaxis to reduce the frequency of bleeding episodes in patients with severe Type 3 VWD receiving on-demand therapy
VWD Connect Foundation
Alphanate: FDA approved
For surgical and/or invasive procedures in patients with von Willebrand Disease (VWD) in whom desmopressin is either ineffective or contraindicated. It is not indicated for patients with severe VWD (Type 3) undergoing major surgery
Humate-P: FDA approved
(1) In adult patients for treatment and prevention of bleeding in hemophilia A (classic hemophilia) and (2) in adult and pediatric patients for treatment of spontaneous and trauma-induced bleeding episodes in severe von Willebrand disease, and in mild and moderate von Willebrand disease where use of desmopressin is known or suspected to be inadequate.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
3 availableVonvendi
For use in adults (age 18 and older) diagnosed with von Willebrand disease (VWD) for routine prophylaxis to reduce the frequency of bleeding episodes in patients with severe Type 3 VWD receiving on-de…
For use in adults (age 18 and older) diagnosed with von Willebrand disease (VWD) for routine prophylaxis to reduce the frequency of bleeding episodes in patients with severe Type 3 VWD receiving on-demand therapy
Alphanate
For surgical and/or invasive procedures in patients with von Willebrand Disease (VWD) in whom desmopressin is either ineffective or contraindicated. It is not indicated for patients with severe VWD (T…
For surgical and/or invasive procedures in patients with von Willebrand Disease (VWD) in whom desmopressin is either ineffective or contraindicated. It is not indicated for patients with severe VWD (Type 3) undergoing major surgery
Humate-P
(1) In adult patients for treatment and prevention of bleeding in hemophilia A (classic hemophilia) and (2) in adult and pediatric patients for treatment of spontaneous and trauma-induced bleeding epi…
(1) In adult patients for treatment and prevention of bleeding in hemophilia A (classic hemophilia) and (2) in adult and pediatric patients for treatment of spontaneous and trauma-induced bleeding episodes in severe von Willebrand disease, and in mild and moderate von Willebrand disease where use of desmopressin is known or suspected to be inadequate.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Pseudo-von Willebrand disease at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Pseudo-von Willebrand disease.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Pseudo-von Willebrand disease.
Community
No community posts yet. Be the first to share your experience with Pseudo-von Willebrand disease.
Start the conversation →Latest news about Pseudo-von Willebrand disease
Disease timeline:
New recruiting trial: A Study Assessing HMB-002 in Participants With Von Willebrand Disease
A new clinical trial is recruiting patients for Pseudo-von Willebrand disease
New recruiting trial: A Study of Bleeding and Treatment in Participants With Von Willebrand Disease
A new clinical trial is recruiting patients for Pseudo-von Willebrand disease
New recruiting trial: The Severe Von Willebrand Disease (sVWD) Patient Registry
A new clinical trial is recruiting patients for Pseudo-von Willebrand disease
New recruiting trial: Efficacy and Safety of BT200 (Rondaptivon Pegol) in Patients With Type 2B Von Willebrand Disease
A new clinical trial is recruiting patients for Pseudo-von Willebrand disease
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How do I know if my bleeding is serious enough to go to the emergency room?,Should I avoid any specific medications, including over-the-counter pain relievers?,What should I tell my dentist or surgeon before any procedure?,Is desmopressin (DDAVP) safe for me, or should I avoid it?,Should my family members be tested for this condition?,What should I do if I become pregnant or am planning a pregnancy?,Are there any clinical trials or new treatments I should know about?
Common questions about Pseudo-von Willebrand disease
What is Pseudo-von Willebrand disease?
Pseudo-von Willebrand disease (also called platelet-type von Willebrand disease, or PT-VWD) is a rare inherited bleeding disorder that affects how platelets — the tiny blood cells that help form clots — work together with a protein called von Willebrand factor (VWF). Unlike classic von Willebrand disease, where the problem lies in the VWF protein itself, pseudo-von Willebrand disease is caused by a change in the platelet surface receptor called GPIbα. This faulty receptor grabs onto VWF too tightly, which causes large clumps of platelets to form and be removed from the bloodstream too quickly.
How is Pseudo-von Willebrand disease inherited?
Pseudo-von Willebrand disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
What treatment and support options exist for Pseudo-von Willebrand disease?
3 patient support programs are currently tracked on UniteRare for Pseudo-von Willebrand disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.