Clinical Spectrum and Complications of Polycythemia, in Patients presenting at Tertiary Care Centre at Goa

Abstract

Background: Polycythemia is characterized by rise in hemoglobin and hematocrit, either as a result of hematopoietic clonal expansion (Vera) or secondary to hypoxic stimuli (secondary polycythemia).It is of great importance to detect early and identify the type of polycythemia and also asses the thrombotic risk so that timely and appropriate treatment can be given. The present study aims to characterize the different presentations and complications of polycythemia, evaluate genetic factors and differences between the two categories of polycythemia in ethnic Goan subjects.

Aims and objectives: 1. To identify common presentations and etiologies of polycythemia 2. To evaluate and compare the differences in clinical features, hematological parameters and complications of polycythemia in primary (vera) and secondary polycythemia 3. To study the profile of JAK 2 V617F mutation in Goan patients with polycythemia Vera.

Materials and methods: This was a retrospective observational cohort study, conducted at the Department of Internal Medicine, Goa Medical College, a tertiary care, teaching institute in the state of Goa. We analysed clinical and laboratory data of patients of polycythemia due to all causes (polycythemia Vera and secondary causes) previously admitted or following up at the hospital from January 2014 to December 2017. In each of these 2 groups, we studied the various clinical parameters including the age at presentation,sex,residence, symptomatology and clinical findings,presence of hypertension, as well as complications arising due to polycythemia (past and at present) hematological data including Hb,HCT, total WBC count, absolute neutrophil count, RBC and platelet count, ESR, rouleaux formation, EPO levels and JAK 2 V617F mutation analysis (done by real time PCR technique) and requirement of phlebotomies in the last 4 years. Commonest clinical presentations and complications arising due to polycythemia, in each group were analysed and compared.

Results: A total of 44 patients were included in the study out of which 33 were males. Polycythemia Vera was seen in 43.18% while secondary causes were seen in 56.8 % patients. Patients with Vera were found to be more symptomatic with higher levels of mean Hb, HCT, cell counts and with a higher requirement of phlebotomy and more thrombotic complications. Amongst Vera group, patients having high WBC count, increased Rouleau formation, and JAK2 positivity were found to be more prone for thrombosis. Hypertension was frequently seen to be associated with both groups. Obstructive sleep apnea followed by COPD was found to be the commonest causes of secondary polycythemia.

Conclusion: Our study revealed that patients with polycythemia Vera are more symptomatic and have a higher requirement of phlebotomy and a higher thrombotic tendency (arterial being more common than venous) as compared to the secondary polycythemia owing to a higher hyperviscocity in the former. Leukocytosis and JAK 2 617F positivity were found to be important predictors of thrombotic risk. Hypertension was found to be frequently associated with Vera as well as in secondary causes due to OSA.