Living with Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
An inherited platelet condition caused by RUNX1 changes, with easy bruising and a higher chance of some blood cancers.
Understanding Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
People often have thrombocytopenia (a low platelet count), which can lead to unusual bleeding. The most common related cancer is acute myelogenous leukemia. Myelodysplastic syndrome, T- and B-cell lymphoblastic leukemias, and lymphomas can also occur. Some people also have eczema or psoriasis.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but the summary describes these signs:
- Easy bruising
- Prolonged bleeding
- Low platelet count (thrombocytopenia)
- Eczema or psoriasis in some people
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
The RUNX1 Research Program may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: The RUNX1 Research Program
- 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 The RUNX1 Research Program
- 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
It is caused by changes in the RUNX1 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: familial platelet disorder with propensity to acute myelogenous leukemia; familial platelet syndrome with predisposition to acute myelogenous leukaemia; familial platelet syndrome with predisposition to acute myelogenous leukemia; fpd/aml syndrome; fps/aml syndrome; platelet disorder, aspirin-like
Patient organizations
- The RUNX1 Research ProgramHereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 · United States
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