Living with Congenital plasminogen activator inhibitor type 1 deficiency
A rare inherited bleeding disorder that causes bleeding after injury to last longer than usual.
Understanding Congenital plasminogen activator inhibitor type 1 deficiency
Bleeding after injury can be excessive and last longer than usual. People may have long nosebleeds, bleeding after medical or dental procedures, easy bruising, and bleeding into joints or soft tissues after even a minor injury. Females may have heavy periods and bleeding in pregnancy and childbirth. Some people develop scar tissue in the heart (cardiac fibrosis). It can start at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bleeding that lasts after minor injury
- Easy bruising (bleeding below the skin)
- Heavy periods (menorrhagia)
- Prolonged bleeding after surgery
- Nosebleeds
- Bleeding into joints
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in SERPINE1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Bleeding Disorders Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SERPINE1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital pai-1 deficiency; hyperfibrinolysis due to pai1 deficiency
Patient organizations
- National Bleeding Disorders FoundationCongenital plasminogen activator inhibitor type 1 deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital plasminogen activator inhibitor type 1 deficiency.
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