Living with Macrothrombocytopenia with mitral valve insufficiency
A rare genetic bleeding condition with large, low-count platelets and a leaky heart valve.
Understanding Macrothrombocytopenia with mitral valve insufficiency
Platelets are large and do not work well, and the count is moderately low. GARD describes mild bleeding problems, such as bruises and nosebleeds, and a longer bleeding time. It is linked with mitral valve insufficiency, where a heart valve does not close fully. It is described in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Large platelets that do not work well
- Moderately low platelet count
- Easy bruising
- Nosebleeds
- Longer bleeding time
- Leaky mitral heart valve
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 Platelet Disorder Support Association and other patient organizations
- 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
Changes in genes (also called variants) cause this condition. GARD does not name a specific gene.
Patient organizations
- Platelet Disorder Support AssociationMacrothrombocytopenia with mitral valve insufficiency · United States
- National Bleeding Disorders FoundationMacrothrombocytopenia with mitral valve insufficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Macrothrombocytopenia with mitral valve insufficiency.
Explore research for Macrothrombocytopenia with mitral valve insufficiency
Explore actively recruiting Macrothrombocytopenia with mitral valve insufficiency studies with HealthSpark.
Find actively recruiting studies for Macrothrombocytopenia with mitral valve insufficiency 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 Macrothrombocytopenia with mitral valve insufficiency 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 Macrothrombocytopenia with mitral valve insufficiency
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 Macrothrombocytopenia with mitral valve insufficiency 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.