Overview
Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare inherited bleeding disorder. It is also sometimes called PAI-1 deficiency or SERPINE1 deficiency. In a healthy body, a protein called PAI-1 helps control bleeding by slowing down the process that breaks up blood clots. When someone is born without enough PAI-1 — or with none at all — their body breaks down blood clots too quickly. This means that even after a wound starts to heal and a clot forms, the clot dissolves before the tissue has fully repaired itself, leading to prolonged or delayed bleeding. The main symptoms include heavy or prolonged bleeding after injuries, surgeries, dental procedures, or childbirth. Some people also experience spontaneous bleeding episodes without any obvious cause. Interestingly, bleeding may not start right away — it can begin hours or even days after an injury, which can make the condition easy to miss at first. Treatment focuses on preventing and managing bleeding episodes. The main approach uses antifibrinolytic medicines — drugs that slow down clot breakdown — such as tranexamic acid or aminocaproic acid. These are often given before surgeries or dental work to prevent excessive bleeding. With proper management, most people with PAI-1 deficiency can live full, active lives, though they need to plan carefully around procedures and injuries.
Also known as:
Key symptoms:
Heavy or prolonged bleeding after cuts, injuries, or surgeryDelayed bleeding that starts hours or days after an injury rather than right awayExcessive bleeding during or after dental proceduresHeavy menstrual periods in womenSevere bleeding after childbirth (postpartum hemorrhage)Easy bruisingSpontaneous bleeding without a clear causeBleeding into joints or muscles in some casesNosebleeds that are hard to stopBleeding that restarts after it seemed to have stopped
Clinical phenotype terms (25)— hover any for plain English
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 Congenital plasminogen activator inhibitor type 1 deficiency.
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Specialists
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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 Congenital plasminogen activator inhibitor type 1 deficiency.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What PAI-1 blood tests should I have, and how often should they be repeated?,Should I take tranexamic acid or aminocaproic acid before dental work or surgery, and what dose?,What should I do if I have an unexpected bleeding episode — do I go to the emergency room or call you first?,Are there any activities or sports I should avoid because of my bleeding risk?,If I am planning a pregnancy, what special care will I need during delivery?,Should my family members be tested for this condition?,Are there any clinical trials or new treatments I should know about?
Common questions about Congenital plasminogen activator inhibitor type 1 deficiency
What is Congenital plasminogen activator inhibitor type 1 deficiency?
Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare inherited bleeding disorder. It is also sometimes called PAI-1 deficiency or SERPINE1 deficiency. In a healthy body, a protein called PAI-1 helps control bleeding by slowing down the process that breaks up blood clots. When someone is born without enough PAI-1 — or with none at all — their body breaks down blood clots too quickly. This means that even after a wound starts to heal and a clot forms, the clot dissolves before the tissue has fully repaired itself, leading to prolonged or delayed bleeding. The main symp
How is Congenital plasminogen activator inhibitor type 1 deficiency inherited?
Congenital plasminogen activator inhibitor type 1 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.