Living with Quebec platelet disorder
A rare inherited bleeding disorder that causes bleeding after injury or surgery, bruising, and joint and muscle bleeds.
Understanding Quebec platelet disorder
People can have moderate to severe bleeding after injury, surgery, or childbirth. They also have frequent bruising, bleeding from the nose and mouth, and bleeding into muscles and joints. GARD lists onset in adulthood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Bleeding after injury, surgery, or childbirth
- Frequent bruising
- Bleeding from the nose or mouth (mucocutaneous)
- Bleeding into muscles
- Bleeding into joints
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 PLAU 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 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
This condition is caused by changes in the PLAU gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: bdplt5; bleeding disorder, platelet-type, 5; factor v quebec; platelet-type bleeding disorder 5; qpd
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 Quebec platelet disorder.
Explore research for Quebec platelet disorder
Explore actively recruiting Quebec platelet disorder studies with HealthSpark.
Find actively recruiting studies for Quebec platelet disorder 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
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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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