ESSENTIAL

THROMBOCYTHEMIA
BY: DR K.S.K JUSU
DEPARTMENT OF HAEMATOLOGY
COMAHS-USL
• NORMAL PLATELET COUNT
1.5-4.5 lac/mm3

 THROMBOCYTOSIS- >4.5lac/mm3
Causes of thrombocytosis

 AUTONOMOUS( Cell intrinsic mechanism)

 Its clonal- acquire mutations of genes and are associated with MPNs
 Rarely familial
 Thrombosis at unusual sites/multiple sites, or in younger patient
 Familial history of unexplained thrombocytosis
 REACTIVE
 Anemia
 Infection
 Inflamatory condition
 Post splenectomy
ESSENTIAL THROMBOCYTHEMIA

 Essential/idiopathic/primary thrombocytosis, hemorrhagic thrombocythemia

 Non reactive chronic myeloproliferative disorder
 Involves pluripotent hematopoietic stem cell
 Clinically manifested by platelet over production
 Has a tendency for thrombosis and hemorrhage
 Isolated thrombocytosis can be the initial clinical manifestation of PV
EPIDEMIOLOGY

 Female preponderance( younger patients)

 Rare in children
 Can occur at any age
 Median age at diagnosis is 60 years
 Seen in one-third of cases of BCR-ABLNeg MPNs
 Incidence: 1-2/100000
ETIOLOGY

 Autonomous production: CFU-Meg form colonies in the absence of exogenous

thrombopoietin(Tpo)
 Increase sensitivities to cytokines( interleukin-3, IL-3)
 Increase effect of platelet-inhibiting factors( transforming growth factor,
TGF-Beta)
Genetic Mutations(90%)

 Janus kinase 2, present in 60-67% in ET patient, turn on thrombopoietin

receptor permanently
 Calreticulin( CALR), 20-25% of ET patient, exclusive ofv JAK2 and MPL
mutation
CLINICAL FEATURES

 Asymptomatic at diagnosis, 45-50%

 Vasomotor symptoms 13-40%
 Thrombosis 9-22%
 Haemorrhage 3-37%
 History of fetal loss 43%
 Palpable splenomegaly 35%
Vasomotor symptoms

 Headache
 Lightheadedness
 Syncope
 Atypical chest pain
 Livedo reticularis
 erythromelalgia
Investigations

 Complete blood count

 Peripheral blood smear
 Coagulation profile
 Bleeding time
 Serum potassium
 Genetic studies
 Bone marrow biopsy
 Platelet aggregation studies
Suggested diagnostic criteria for ET
FROM: Beer P.A and Green A.R
DIAGNOSIS REQUIRES A1-A3 OR A1+ A3-A5
 A1 sustain platelet count> 450 x 109/L
 A2 presence of an acquired pathogenetic mutation eg MPL or JAK2
 A3 No other myeloid malignancy like CML, PV, Primary myelofibrosis
or myelodysplastic syndrome
 A4 No reactive cause of thrombocytosis and normal iron stores
 A5 bone marrow trephine histology showing increased megakaryocytes
with prominent large hyperlobulated forms
WHO diagnostic criteria for ET

 MAJOR CRITERIA
 platelet count > 4.5lac/microl
 Bone marrow biopsy showing proliferation mainly of the megakaryocyte lineage
with increase numbers of enlarged, mature megakaryocytes with
hyperlobulated nuclei
 Not meeting WHO criteria for BCR-ABL 1
 Presence of JAK2 , CALR, or MPL mutation
 MINOR CRITERIA
 Presence of a clonal maker or absence of evidence for reactive thrombocytosis
NOTE: All 4 major = first three major + minor
Management goals

 To alleviate symtoms
 To prevent thrombotic/ haemorrhagic complications
 No curative treatment
 no survival benefit
 Treatment does not prevent disease transformation
Treatment modalities

 Low dose aspirin

 Cytoreductive therapy
- hydroxyurea
- anagrelide
- interferon
 plateletpheresis
Thanks for listening