POLYCYTHEMIA

Approach and Recent Advances

Presenter : Maj Jayaraj H

Moderator : Gp Capt Harshit Khurana
Overview

■ Definition and Classification

■ Clinical Presentation

■ Diagnostic approach to polycythemia

■ Diagnostic criteria for polycythemia vera (PV)

■ Risk stratification and treatment algorithm for PV

■ Emerging Treatments
 Definition
■ Polycythemia is defined as an increase in hemoglobin concentration
and/or hematocrit in peripheral blood.
– Increased hemoglobin 1 >16.5 g/dL in men or >16.0 g/dL in
women
– Increased hematocrit 1 >49 % in men or >48 % in women
– RBC mass 1 >36mL/kg (men) or >32mL/kg (women)

Primary
polycythemia
Absolute
polycythemia
Secondary
Polycythemia
polycythemia
Relative
polycythemia

1. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th edition, Swerdlow
SH, Campo E, Harris NL, et al. (Eds), International Agency for Research on Cancer (IARC), Lyon 2017. no
abstract available
Mutations in PV
Mutations in PV
History
Symptoms that may be caused by the elevated Hb/Hct and/or
suggest the presence of PV/MPN include:

■ Hyperviscosity symptoms

■ Thrombosis or bleeding

■ Cytokine related symptoms

■ Organomegaly
History
Additional clues to the underlying disorder, including causes and
risk factors for secondary polycythemia –

■ Volume depletion

■ Cardio-pulmonary disease

■ Abdomino-pelvic tumor

■ Smoking history
Physical examination
Manifestations of volume depletion, hyperviscosity, cardio-
pulmonary disease, and a possible underlying MPN, including –
■ Cyanosis and clubbing
■ Facial Plethoric
■ Areas of painful erythema
■ Cardiopulmonary signs
■ Hepatosplenomegaly
Diagnostic Criteria for PV
(2016 revised WHO criteria)
ELN Response Criteria for
PV
Symptom burden assessment
Ruxolitinib
 Emerging Treatments

■ PTG-300 (Refuspertide) – Hepcidine Mimetic (in Phase II trial)

■ Idasanutlin - MDM2 Antagonist (Phase II trial)

■ Givinostat – HDAC inhibitor (Phase III trial awaited)

Take home message:
 Important mutations

 Revised WHO (2016) diagnostic criteria for PV

 Diagnostic algorithm and current practice guidelines for

polycythemia vera.

 Novel Therapy – Ginivostat (HDAC inhibitor) has shown

promising results in Phase II study  Phase III is planned.