Living with Thrombophilia due to thrombin defect
An inherited condition (prothrombin thrombophilia) that raises the chance of forming harmful blood clots.
Understanding Thrombophilia due to thrombin defect
Clots can form when they are not needed and block blood flow. People have a higher risk of deep vein thrombosis, usually in the arms or legs, and of pulmonary embolism, a clot in the lungs. Many people never have a clot. Risk goes up with surgery, injury, air travel, obesity, family history, pregnancy, estrogen-containing birth control, or hormone therapy after menopause.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The main concern is blood clots:
- Deep vein blood clot (deep vein thrombosis)
- Blood clot in the lungs (pulmonary embolism)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Blood Clot Alliance
- 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
GARD says this condition is autosomal dominant, which means one changed copy of a gene can be enough to cause it. It doesn't name a specific gene in this record.
Also known as: factor v r2 mutation thrombophilia; prothrombin thrombophilia; prothrombin-related thrombophilia; prothrombin-related thrombophilia (factor ii); thph1; thrombophilia 1 due to thrombin defect
Patient organizations
- National Blood Clot AllianceThrombophilia due to thrombin defect · United States
You are more than your diagnosis
Perspectives from people navigating life with Thrombophilia due to thrombin defect.
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