Overview
Thrombomodulin-related bleeding disorder is a very rare inherited condition caused by changes (mutations) in the THBD gene, which provides instructions for making a protein called thrombomodulin. Thrombomodulin plays an important role in controlling blood clotting. It sits on the surface of cells lining blood vessels and helps regulate how quickly and effectively your blood forms clots. When this protein does not work properly, the balance between bleeding and clotting is disrupted, leading to an increased tendency to bleed. People with this disorder may experience prolonged bleeding after injuries, surgery, or dental procedures. They may also have easy bruising, nosebleeds, heavy menstrual periods in women, and in some cases, bleeding into joints or soft tissues. The severity of symptoms can vary from person to person, even within the same family. Treatment is mainly supportive and focused on managing bleeding episodes. There is no cure for this condition. Doctors may use clotting factor replacement therapies, antifibrinolytic medications (such as tranexamic acid), or other blood products to help control bleeding when it occurs. Patients are advised to work closely with a hematologist who specializes in bleeding disorders to develop a personalized management plan.
Also known as:
Key symptoms:
Easy bruisingProlonged bleeding after cuts or injuriesExcessive bleeding after surgery or dental workFrequent or prolonged nosebleedsHeavy menstrual periods in womenBleeding into jointsBleeding into soft tissues or musclesProlonged bleeding after childbirthBlood in urine or stool in some cases
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
Treatments
No FDA-approved treatments are currently listed for Thrombomodulin-related bleeding disorder.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Thrombomodulin-related bleeding disorder at this time.
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Specialists
View all specialists →No specialists are currently listed for Thrombomodulin-related bleeding disorder.
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 Thrombomodulin-related bleeding disorder.
Community
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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 severe is my (or my child's) bleeding tendency based on current test results?,What medications should I always have on hand in case of a bleeding episode?,Are there any activities or sports I should avoid?,What should I tell my dentist or surgeon before a procedure?,Should other family members be tested for this condition?,What are the warning signs that I need to go to the emergency room?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Thrombomodulin-related bleeding disorder
What is Thrombomodulin-related bleeding disorder?
Thrombomodulin-related bleeding disorder is a very rare inherited condition caused by changes (mutations) in the THBD gene, which provides instructions for making a protein called thrombomodulin. Thrombomodulin plays an important role in controlling blood clotting. It sits on the surface of cells lining blood vessels and helps regulate how quickly and effectively your blood forms clots. When this protein does not work properly, the balance between bleeding and clotting is disrupted, leading to an increased tendency to bleed. People with this disorder may experience prolonged bleeding after in
How is Thrombomodulin-related bleeding disorder inherited?
Thrombomodulin-related bleeding disorder follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.