Essential thrombocythemia

Question 1

what is essential thrombocythemia

Answer 1

increased megakaryocyte proliferation => increased platelets (>450 x10^9/L) => leading to XS clotting + bleeding

Question 2

causes of essential thrombocythemia

Answer 2

genetic mutations (JAK2, MPL, calreticulin)

Question 3

symptoms for essential thrombocythemia

Answer 3

• 50% asymptomatic
• erythromelalgia (burning pain + dusky discolouration of limbs)
• headache
• reflux, abdo pain (duodenal ulcer secondary to bleeding)
• thrombosis symptoms (pain/swollen limbs, weakness/numbness/slurred speech/confusion, SOB/chest pain)

Question 4

signs for essential thrombocythemia

Answer 4

splenomegaly
swollen legs/arms (thrombosis)
livedo reticularis (mottling lacy appearance on legs- can be XS hydrocarbamide)

Question 5

investigations for essential thrombocythemia

Answer 5

1. FBC with peripheral blood smear (raised platelets)
2. exclude secondary (reactive) thrombocythemia
   iron panel
   ESR/CRP (inflammation)
   fibrinogen
3. For unknown cause
   bone marrow biopsy
   genetic testing- JAKL/ MPL/ calreticulin

Question 6

management of essential thrombocythemia

Answer 6

acute =>plateletpheresis (remove blood, remove platelets and put blood back)

chronic
1. monitor platelet levels
2. hydroxycarbamide (cytoreductive therapy => reduced platelets)
3. antiplatelets (aspirin) => signs of vascular disease
4. anticoagulants (heparin) => for venous thrombosis

Question 7

complications of essential thrombocythemia

Answer 7

AML (uncommon)
Primary myelofibrosis (uncommon)
Bleeding
Thrombosis
- TIA/ stroke
- retinal artery occlusion
- coronary artery occlusion
- pulmonary embolism
- hepatic artery occlusion
- DVT
- digit ischaemia (present as reynauds phenomenon)

Question 8

what investigation is done after confirmed/suspected TIA

Answer 8

carotid artery ultrasound to check for carotid artery stenosis

Question 9

prognosis of essential thrombocythemia

Answer 9

normal life expectancy