Living with Familial thrombocytosis
An inherited condition with a persistently high platelet count that can lead to clotting or bleeding problems.
Understanding Familial thrombocytosis
It can create a tendency toward blood clots and bleeding but does not cause an overgrowth of bone marrow cells (myeloproliferation). It is listed as starting in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High platelet count (thrombocytosis)
- Blood clots in arteries or veins
- Abnormal bleeding
- Headache
- Chest pain
- Mini-stroke (transient ischemic attack)
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 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
Changes in genes cause it. It can be passed down in an autosomal dominant or X-linked way.
Also known as: familial thrombocythemia; hereditary thrombocythemia; hereditary thrombocytosis; hereditary thrombocytosis disease; thcyt
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 Familial thrombocytosis.
Explore research for Familial thrombocytosis
Explore actively recruiting Familial thrombocytosis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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