Living with Platelet-type bleeding disorder 8
A rare inherited bleeding disorder, also called P2Y12 defect, with easy bruising and bleeding after surgery.
Understanding Platelet-type bleeding disorder 8
The problem is in the platelet P2Y12 receptor, so platelets respond poorly to a signal called adenosine diphosphate. It causes mild to moderate bleeding, easy bruising, bleeding from mucous membranes and heavy bleeding after surgery. It can begin in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its description mentions these:
- Easy bruising
- Bleeding from mucous membranes
- Heavy bleeding after surgery
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 P2RY12 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 Platelet Disorder Support Association
- 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 the P2RY12 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: adp platelet receptor p2y12 defect; bdplt8; bleeding disorder due to adp platelet receptor p2y12 defect; bleeding disorder due to p2rx1 defect, somatic; bleeding disorder due to p2ry12 defect; bleeding disorder due to p2y12 defect
Patient organizations
- Platelet Disorder Support AssociationPlatelet-type bleeding disorder 8 · United States
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