Polycythemia vera differential diagnosis

Polycythemia vera Microchapters
Home
Patient Information
Overview
Historical perspective
Classification
Pathophysiology
Causes
Differentiating Polycythemia vera from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural history, Complications and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Polycythemia vera differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Polycythemia vera differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Polycythemia vera differential diagnosis
CDC on Polycythemia vera differential diagnosis
Polycythemia vera differential diagnosis in the news
Blogs on Polycythemia vera differential diagnosis
Directions to Hospitals Treating Polycythemia vera
Risk calculators and risk factors for Polycythemia vera differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3]

Overview

Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions.

Disease	Etiology	Symptoms	Signs	Laboratory abnormalities	Treatment	Other associated abnormalities
Polycythemia vera (PV)	JAK2 mutation (V617F or exon 12 mutation) in more than 95% of cases Autonomous erythrocyte production	Erythromelagia Headache Stroke-like symptoms	Ruddy face Splenomegaly	Elevated hemoglobin Elevated red blood cell mass Elevated white blood cell count and platelet count in some cases (panmyelosis)	Aspirin Ruxolitinib Hydroxyurea Phlebotomy Interferon-alpha	Extramedullary hematopoiesis Stroke Venous thrombosis Can progress to post-PV myelofibrosis and eventually acute leukemia
Essential thrombocythemia (ET)	Clonal proliferation of megakaryocytes Excess platelet production Caused by JAK2 mutation in 50% of cases Caused by CALR mutation in some cases	Stroke-like symptoms Fatigue Bleeding due to dysfunctional platelets and acquired von Willebrand disease	Splenomegaly Bruising	Elevated total platelet count	Aspirin Hydroyurea Anagrelide	Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease Can progress to post-ET myelofibrosis Can develop into acute leukemia
Chronic myeloid leukemia (CML)	Reciprocal translocation of chromosomes 9 and 22 Production of BCR-Abl kinase, which drives cell proliferation	Abdominal pain Infections Fever	Splenomegaly	Elevated total white blood cell count Elevated red blood cell count and platelet count occasionally Increased proportion of metamyelocytes and other white blood cells at various stages of maturation	Imatinib Dasatinib Bosutinib Nilotinib Ponatinib for T315I kinase domain mutation Interferon-alpha	Can appear similar to leukemoid reaction
Primary myelofibrosis (PMF)	Clonal disorder of megakaryocytes Excess production TGF-beta and collagen	Fatigue Abdominal pain Early satiety	Splenomegaly Hepatomegaly Pallor Bruising	Decreased hemoglobin (anemia) Decreased platelet count (thrombocytopenia) Decreased white blood cell count (leukopenia)	Hydroxyurea Stem cell transplant Ruxolitinib	Variable risk for development of acute leukemia
Secondary polycythemia	Congestive heart failure (CHF) Interstitial lung disease (ILD) Obstructive sleep apnea (OSA) Smoking High altitude living Ectopic erythropoietin production from tumor (renal cell carcinoma or hepatocellular carcinoma) Chronic hypoxia from a variety of other causes	Headache Fatigue Shortness of breath	Crackles Cyanosis Tachypnea Tachycardia	Elevated hemoglobin Increased erythropoietin level	Treatment of underlying cause of hypoxia Supplemental oxygen Diuresis for CHF Steroids for ILD Continuous positive airway pressure for OSA Smoking cessation or nicotine replacement Surgical removal of tumors	Variable manifestations given the diverse etiologies