Living with Alpha-2-plasmin inhibitor deficiency
A rare bleeding disorder present from birth, causing long bleeding and bruising after minor injuries.
Understanding Alpha-2-plasmin inhibitor deficiency
Without enough of this protein, blood clots break down too quickly. People have a tendency to bleed from childhood, with prolonged bleeding and bruising after minor injuries. Bleeding can also happen on its own, sometimes in unusual places such as the shafts of long bones.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bleeding more easily than usual
- Bleeding that lasts long after minor injuries
- Bleeding into a joint
- Blood in the urine (hematuria)
- Bleeding into muscle (hematoma)
- Blood in the chest cavity (hemothorax)
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 SERPINF2 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 rare disease patient organizations for support
- 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
Changes in the SERPINF2 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: antiplasmin deficiency; antiplasmin defiency; congenital alpha2-antiplasmin deficiency; plasmin inhibitor deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha-2-plasmin inhibitor deficiency.
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- Recruiting studies from ClinicalTrials.gov
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