Overview
Bleeding diathesis due to a collagen receptor defect is a rare inherited bleeding disorder caused by problems with the way platelets — the tiny blood cells that help stop bleeding — attach to collagen. Collagen is a protein found in blood vessel walls. When a blood vessel is injured, platelets normally grab onto collagen to start forming a clot. In this condition, the receptors on the surface of platelets that recognize and bind to collagen do not work properly. This means platelets cannot do their job well, and bleeding takes longer to stop than it should. The most well-known form of this condition involves defects in a platelet receptor called GPVI (glycoprotein VI) or the integrin alpha-2/beta-1 complex (also known as GPIa/IIa). These receptors are essential for platelets to stick to damaged blood vessel walls. When they are missing or not working, people experience a mild to moderate bleeding tendency. Common symptoms include easy bruising, prolonged bleeding from cuts, heavy menstrual periods, nosebleeds that are hard to stop, and bleeding after surgery or dental procedures. The condition is generally considered mild compared to other platelet disorders, and many people live normal lives with careful management. Treatment focuses on controlling bleeding episodes rather than curing the underlying defect. Avoiding blood-thinning medications and using targeted therapies during surgery or injury are key parts of care.
Key symptoms:
Easy or unexplained bruisingProlonged bleeding from small cuts or woundsHeavy or unusually long menstrual periodsFrequent or hard-to-stop nosebleedsBleeding gums, especially after brushing teeth or dental workExcessive bleeding after surgery or tooth extractionBleeding into the skin causing small red or purple spots (petechiae)Prolonged bleeding after childbirthRarely, bleeding into joints or muscles
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Bleeding diathesis due to a collagen receptor defect.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Bleeding diathesis due to a collagen receptor defect at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Bleeding diathesis due to a collagen receptor defect.
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
Travel Grants
No travel grants are currently matched to Bleeding diathesis due to a collagen receptor defect.
Community
No community posts yet. Be the first to share your experience with Bleeding diathesis due to a collagen receptor defect.
Start the conversation →Latest news about Bleeding diathesis due to a collagen receptor defect
No recent news articles for Bleeding diathesis due to a collagen receptor defect.
Follow this condition to be notified when news becomes available.
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.Which specific collagen receptor is affected in my case, and how does that change my treatment plan?,What medications should I completely avoid because they could make my bleeding worse?,Do I need to take any special precautions before dental work, surgery, or having a baby?,Should my family members be tested for this condition?,What should I do — and where should I go — if I have a serious bleeding episode?,Are there any clinical trials or new treatments I should know about?,Should I carry a medical alert card, and what information should be on it?
Common questions about Bleeding diathesis due to a collagen receptor defect
What is Bleeding diathesis due to a collagen receptor defect?
Bleeding diathesis due to a collagen receptor defect is a rare inherited bleeding disorder caused by problems with the way platelets — the tiny blood cells that help stop bleeding — attach to collagen. Collagen is a protein found in blood vessel walls. When a blood vessel is injured, platelets normally grab onto collagen to start forming a clot. In this condition, the receptors on the surface of platelets that recognize and bind to collagen do not work properly. This means platelets cannot do their job well, and bleeding takes longer to stop than it should. The most well-known form of this co
How is Bleeding diathesis due to a collagen receptor defect inherited?
Bleeding diathesis due to a collagen receptor defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.