History and exam

Key diagnostic factors

common

features of thrombosis

12% to 39% of patients with polycythemia vera have major thrombosis at initial presentation.[2][12]​​ 

Common manifestations include stroke, myocardial infarction, pulmonary embolism, superficial thrombophlebitis, and deep vein thrombosis. May also manifest as thrombosis in an unusual site, such as the abdominal vasculature.

Other diagnostic factors

common

features of hemorrhage

1.7% to 20% of patients with polycythemia vera have major bleeding at initial presentation.[2] 

The skin and mucous membranes are common sites of hemorrhage; gastrointestinal hemorrhage is less common, but it can be severe.[2]

headache

Reported in approximately 30% of patients.[69]​ One prospective study of 137 patients with myeloproliferative neoplasms (PV n=45; essential thrombocythemia n=92) reported that 37 (27.0%) patients had headache at baseline.[89]

Often described in association with a sensation of fullness in the head and neck, dizziness, or perspiration.

Migraines at times.

generalized weakness/fatigue

Many patients will have nonspecific symptoms of fatigue and weakness. Fatigue was reported in 85% of respondents in one internet-based survey of patients with polycythemia vera.[68]​​

Any focal symptoms should prompt urgent evaluation for neurologic abnormality.

pruritus

Pruritus was reported in 65% of respondents in one internet-based survey of patients with PV.​[68] In a large observational study, 13.4% of patients reported severe itching.​[70]

​Commonly evoked by contact with warm water (e.g., after a hot shower [aquagenic pruritus]). Frequently resistant to common therapies, but interferon may have efficacy, as does ruxolitinib.[90][91]

May be associated with a lower risk of arterial thrombosis and better survival.[14][92]

night sweats and bone pain

Common symptoms in patients with myeloproliferative neoplasms.

In an internet-based survey, 49% and 43% of patients with polycythemia vera reported night sweats and bone pain, respectively.[68]

erythromelalgia

Tenderness or painful burning and/or redness of fingers, palms, heels, toes, or face/neck.

splenomegaly

A palpable spleen has been reported in 36% of patients.[14]​ 

Determined by physical exam, or imaging (ultrasound) if suspected and physical exam is equivocal.

plethora/ruddy cyanosis

Common presenting sign, possibly related to hyperviscosity.

uncommon

tinnitus

Some patients may present with tinnitus.[13]​ 

blurry vision

Some patients may present with blurry vision.[13]

arthralgia

Some patients may present with arthralgia.[13]

abdominal discomfort

Some patients may present with abdominal discomfort.[13]

hyperhidrosis (excessive sweating)

Some patients may present with excessive sweating.[13]

Risk factors

strong

age >60 years

Polycythemia vera (PV) more commonly affects middle-aged and older people (approximately 63% of patients are age ≥60 years at diagnosis), but it can occur at any age.[11]​

Median age at diagnosis is 65 years in the US, and 71 years in the UK.[11][20]​

history of Budd-Chiari syndrome (BCS)

A significant proportion of patients with BCS (particularly young women) who present with a normal hematocrit and a normal erythropoietin level will eventually develop a polycythemia vera (PV) phenotype.[13][15][65]

The estimated prevalence of myeloproliferative neoplasms (MPNs) in patients with BCS is 30% to 50%; the majority being PV.[65]

weak

affected family member

Epidemiologic data suggest an increased risk of polycythemia vera (PV) in people who have an affected family member.[43] This association may be caused by inherited genetic mutations that predispose to a PV phenotype.[44] Familial cases of PV are rare.

Janus kinase 2 (JAK2) mutations (JAK2 V617F and JAK2 exon 12)

The JAK2 V617F somatic driver mutation is present in approximately 95% of patients with polycythemia vera (PV).[3][4][5]​​​[6]​​ JAK2 exon 12 mutations are present in approximately 3% to 4% of patients.[28]

PV is the classic phenotypic consequence of the JAK2 V617F mutation. However, this mutation is not specific for PV as it is present in other myeloproliferative neoplasms (essential thrombocythemia, primary myelofibrosis), chronic myelomonocytic leukemia, and acute myeloid leukemia.[31]

Use of this content is subject to our disclaimer