Mohamed Magdy: Essential Thrombocythemia Summary
Mohamed Magdy, Wound Care Consultant at Armed Force Rehabilitation Center, posted on LinkedIn:
“Essential Thrombocythemia (ET) Summary
Definition:
- Chronic myeloproliferative neoplasm (MPN).
- Characterized by persistent overproduction of platelets due to abnormal megakaryocytes in the bone marrow.
Pathophysiology:
- Clonal proliferation of megakaryocytes high platelet production.
- Main mutations:
JAK2 V617F (50 to 60 percent)
CALR (20 to 30 percent)
MPL (5 to 10 percent )
Clinical Features:
Thrombosis:
- Stroke TIA
- Myocardial infarction
- DVT PE
- Microvascular symptoms:
Headache
Visual disturbances
Erythromelalgia (burning pain and redness of hands or feet)
Bleeding:
- Easy bruising
- Mucosal bleeding
- GI bleeding (especially with very high platelet counts)
Diagnosis:
- Persistent platelets 450 10⁹L
- Bone marrow: increased abnormal megakaryocytes
- JAK2 CALR MPL mutation testing
- Exclude reactive thrombocytosis and other MPNs
Risk Stratification:
Low risk:
• Age low 60 years
• No previous thrombosis
High risk:
- Previous thrombosis
- Age high 60 years
- JAK2 mutation with risk factors
Treatment:
Low risk:
Observation plus or minus low dose aspirin (if indicated)
High risk:
Cytoreductive therapy:
Hydroxyurea (first line)
Interferon α (alternative, especially younger patients or pregnancy)
Aspirin when appropriate for prevention of microvascular symptoms or thrombosis.
High Yield Points:
ET equal MPN with high platelets
Most common mutation equal JAK2 V617F
Main complications equal Thrombosis plus Bleeding”
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