Living with Thrombomodulin-related bleeding disorder
A rare genetic condition with a strong tendency to bleed and bruise because of high thrombomodulin in the blood.
Understanding Thrombomodulin-related bleeding disorder
People bruise easily and bleed after injury, in soft tissue and muscles, and in joints. Women can have heavy periods. It happens because blood has high levels of soluble thrombomodulin, which lowers the blood's ability to form clots. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy bruising and bleeding after injury
- Bleeding into soft tissue and muscle
- Bleeding into joints
- Heavy menstrual periods
- Blood clots in deep veins (deep venous 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
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in THBD 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
This condition is caused by changes in the THBD gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: thbd (thrombomodulin) related bleeding disorder; thbd-related bleeding disorder; thbd-related coagulopathy; thph12; thrombomodulin-related coagulopathy; thrombophilia 12 due to thrombomodulin defect
Patient organizations
- National Bleeding Disorders FoundationThrombomodulin-related bleeding disorder · United States
You are more than your diagnosis
Perspectives from people navigating life with Thrombomodulin-related bleeding disorder.
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