Living with Congenital prothrombin deficiency
A rare inherited bleeding disorder in which blood does not clot well because of low or faulty prothrombin.
Understanding Congenital prothrombin deficiency
It causes prolonged bleeding, especially after injury or surgery. Women may have heavy menstrual bleeding. Severity varies, from severe bleeding without a known cause to increased bleeding only after surgery or serious injury. There are two inherited types: type I (hypoprothrombinemia) and type II (dysprothrombinemia). A non-inherited form can be caused by vitamin K deficiency, liver disease, or an autoimmune response.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bleeding that lasts longer than usual
- Nosebleeds
- Bleeding into joints
- Bleeding in the skull
- Abnormal clotting test results
- Heavy periods
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 F2 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 F2 gene. Both types are autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital factor ii deficiency; dysprothrombinemia; factor ii deficiency; hereditary factor ii deficiency disease; hereditary hypoprothrombinemia; hereditary prothrombin deficiency
Patient organizations
- National Bleeding Disorders FoundationCongenital prothrombin deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital prothrombin deficiency.
Explore research for Congenital prothrombin deficiency
Explore actively recruiting Congenital prothrombin deficiency studies with HealthSpark.
Find actively recruiting studies for Congenital prothrombin deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital prothrombin deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital prothrombin deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital prothrombin deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.