Clinico-Haematological Profile and Risk Stratification in Patients with Essential Thrombocythemia

Abstract

Background: Essential thrombocythemia is an uncommon clonal myeloproliferative neoplasm characterized by sustained thrombocytosis of more than 450x10⁹/L, marked megakaryocytic hyperplasia and high risk of vascular complications. Diagnosis is made by ruling out secondary causes of thrombocytosis, Polycythaemia Vera (PV), Primary Myelofibrosis (PMF) and Chronic Myeloid Leukaemia (CML) and by presence of somatic genetic mutations like Janus kinase-2 (JAK2)/ Calreticulin (CALR)/ Myeloproliferative leukaemia (MPL).

Aims and Objectives: This study was designed to find out the prevalence of essential thrombocythemia among various patients of myeloproliferative neoplasms (MPNs), to analyse their clinical and haematological parameters, genetic mutations and to do risk stratification in patients with essential thrombocythemia.

Material and Methods: This prospective observational study was conducted in the Department of Clinical Pathology, Pt. B. D. Sharma, PGIMS, Rohtak, Haryana. A total of 24 cases of essential thrombocythemia were enrolled from April 2020 to March 2023. Data analysis was done using Statistical Package for the Social Sciences Version 22.0.

Results: Among 110 patients with myeloproliferative neoplasms, the prevalence of essential thrombocythemia was found to be 24 (21.81%). The mean age of patients was 52.20±12.46 years with age range of 32 to 78 years and male to female ratio of 1:1.4. In symptomatic patients, major complaints were generalised weakness in 16 cases (66.67%), headache in 11 cases (45.83%) and pain in abdomen in 8 cases (33.33%). The mean haemoglobin level was 11.10±2.70 g/dl, total leukocyte count was 13158.20±92185.40 cells/mm³ and platelet count was 845000±372000 cells/mm³. Risk stratification was done and majority of the patients, 13 cases (54.17%) were in intermediate risk group, followed by 8 cases (33.33%) in high-risk group and 3 cases (12.50%) in low-risk group.

Conclusion: Essential thrombocythemia is uncommon in this region of North-India. Patients were usually symptomatic on presentation indicating delay in seeking medical attention. Platelet counts were high and bone marrow was hypercellular with megakaryocytic proliferation in cases with homozygous JAK2 mutation and these patients also presented with more severe complications. Majority of patients were in high and intermediate risk category indicating aggressive disease course.