Living with Familial thrombomodulin anomalies
A rare inherited clotting disorder with a higher risk of blood clots, caused by a change in the thrombomodulin gene.
Understanding Familial thrombomodulin anomalies
It is caused by a change in the thrombomodulin gene. People may have blood clots in the veins (venous thromboembolic disease), heart attack at a young age, or clots in arteries.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Blood clots in the veins
- Blood clots in arteries
- Heart attack (myocardial infarction)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
A change (mutation) in the thrombomodulin gene causes it. GARD doesn't describe how it is inherited.
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 Familial thrombomodulin anomalies.
Explore research for Familial thrombomodulin anomalies
Explore actively recruiting Familial thrombomodulin anomalies studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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