Overview
Inherited predisposition to essential thrombocythemia (ET) refers to a genetic tendency that runs in families, making certain individuals more likely to develop essential thrombocythemia. Essential thrombocythemia is a blood disorder in which the bone marrow produces too many platelets — the blood cells that help with clotting. When platelet counts are too high, it can lead to abnormal blood clotting or, paradoxically, bleeding problems. This condition is sometimes called familial essential thrombocythemia or hereditary thrombocythemia. It is important to note that this Orphanet entry is now classified as 'OBSOLETE,' meaning the concept has been retired or merged into other disease classifications. However, the underlying condition — familial forms of essential thrombocythemia — is still recognized in clinical practice. People with this inherited predisposition may develop symptoms such as headaches, dizziness, visual disturbances, burning or tingling in the hands and feet, and an increased risk of blood clots (thrombosis) or unusual bleeding. Some individuals remain symptom-free for years and are only discovered through routine blood tests showing elevated platelet counts. Treatment focuses on reducing the risk of clotting events and managing symptoms. Low-dose aspirin is commonly used to prevent clots. In higher-risk patients, medications that lower platelet counts — such as hydroxyurea or anagrelide — may be prescribed. Interferon-alpha is another option, particularly for younger patients or those planning pregnancy. Regular monitoring of blood counts and careful management by a hematologist are essential for long-term care.
Also known as:
Key symptoms:
High platelet count found on blood testsHeadachesDizziness or lightheadednessVisual disturbances such as blurred visionBurning or tingling in hands and feet (erythromelalgia)Redness and warmth in hands or feetBlood clots in veins or arteries (thrombosis)Unusual or excessive bleedingFatigue or tirednessEnlarged spleenNight sweatsBruising easilyNumbness in fingers or toes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
1 availableVonjo
indicated for the treatment of adults with intermediate or high-risk secondary (post-essential thrombocythemia) myelofibrosis (MF) with a platelet count below 50 × 10 9 /L
Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Inherited predisposition to essential thrombocythemia.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to OBSOLETE: Inherited predisposition to essential thrombocythemia.
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2 articlesCaregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is my current risk level for blood clots, and how will you monitor it?,Should my family members be tested for this genetic predisposition?,What medications do you recommend, and what are their side effects?,How often will I need blood tests and follow-up appointments?,Are there any activities, medications, or foods I should avoid?,What are the warning signs that I should go to the emergency room?,Is there a risk that this condition could progress to a more serious blood disorder?
Common questions about OBSOLETE: Inherited predisposition to essential thrombocythemia
What is OBSOLETE: Inherited predisposition to essential thrombocythemia?
Inherited predisposition to essential thrombocythemia (ET) refers to a genetic tendency that runs in families, making certain individuals more likely to develop essential thrombocythemia. Essential thrombocythemia is a blood disorder in which the bone marrow produces too many platelets — the blood cells that help with clotting. When platelet counts are too high, it can lead to abnormal blood clotting or, paradoxically, bleeding problems. This condition is sometimes called familial essential thrombocythemia or hereditary thrombocythemia. It is important to note that this Orphanet entry is now
How is OBSOLETE: Inherited predisposition to essential thrombocythemia inherited?
OBSOLETE: Inherited predisposition to essential thrombocythemia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.