Living with Hereditary antithrombin deficiency
An inherited blood clotting condition that raises the chance of clots in the deep veins of the legs.
Understanding Hereditary antithrombin deficiency
Clots most often form in the deep veins of the legs (deep vein thrombosis) and can travel to the lungs (pulmonary embolism). About half of people with it will have at least one clot in their lifetime, usually after adolescence. Age, surgery, and immobility can raise the risk. Women have a higher clot risk in pregnancy and soon after delivery, and may have a higher risk of miscarriage or stillbirth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blood clot in a deep vein (DVT)
- Blood clot in the lungs (pulmonary embolism)
- Repeated blood clots
- Swollen, inflamed vein near the skin surface
- Low antithrombin level
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 autoimmune and inflammatory disease specialists, blood and bone marrow specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in SERPINC1 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
- autoimmune and inflammatory disease specialists (rheumatologists); Blood and bone marrow specialists (hematologists); Bone and joint specialists (orthopedists or orthopedic surgeons); 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 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
It is caused by changes in the SERPINC1 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: anti-thrombin iii deficiency; antithrombin 3 deficiency; antithrombin deficiency; antithrombin iii deficiency; at (antithrombin) deficiency; at iii deficiency
Patient organizations
- National Blood Clot AllianceHereditary antithrombin deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary antithrombin deficiency.
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