Case history

Case history #1

A 55-year-old man has had routine physical exams for several years and has always been healthy, does not smoke, and has no history of pulmonary disease. His primary care physician has noted a gradually increasing hemoglobin level over the past few years (to a current level of 19.5 g/dL), mild leukocytosis, and mild thrombocytosis. He has frequent episodes of facial flushing that are associated with slight headaches and a feeling of fullness in his head and neck. He has noted intermittent burning, stinging, and tingling sensations in his fingertips. He has recurrent, often severe, pruritus that is exacerbated by taking a hot bath. On exam, he has a red face and neck and the spleen is mildly enlarged.

Case history #2

A 62-year-old man, who has always been healthy, arrives for a preoperative check prior to a minor procedure. A routine complete blood count reveals an elevated hemoglobin level of 19.0 g/dL. He is surprised to hear about this abnormal result, as he has not noticed any symptoms or signs that have caused him concern. On exam, the only abnormality is a red facial complexion.

Other presentations

While generally a disease of middle-aged and older people, polycythemia vera (PV) can occur in all age groups, including children (although extremely rare).[9][10][11]​​​​ PV is slightly more common in men.[11]

At initial presentation, it is reported that 12% to 39% of patients have major thrombosis, and 1.7% to 20% have major bleeding.[2][12] The skin and mucous membranes are common sites of bleeding; gastrointestinal bleeding is less frequent, but can be severe.[2] 

​Classic symptoms of PV include headache, generalized weakness/fatigue, pruritus, paresthesias, tinnitus, blurry vision, arthralgia, abdominal discomfort, hyperhidrosis, plethora, and ruddy cyanosis; however, it is unusual for patients to present with all these symptoms.[13]

A palpable spleen is reported in approximately one third of patients.[14]​​​​​ Additionally, a significant proportion of patients (predominantly young women) who present with idiopathic Budd-Chiari syndrome, whose blood counts may be normal, will eventually develop a PV phenotype.[15]

Some patients may have pathologically and molecularly proven PV, without overt elevations in hemoglobin or hematocrit.[16] This is known as “masked PV” as the diagnosis is not obvious from the patient’s hemoglobin/hematocrit. Masked PV patients are more frequently male, and tend to present with higher platelet counts and increased reticulin fibrosis in the bone marrow.[16] Patients experience the same spectrum of complications as with overt PV. However, they have worse survival (particularly among those ages >65 years and those with leukocytosis) and higher rates of progression to myelofibrosis and acute leukemia.[16][17]

Masked PV requires careful pathologic distinction from essential thrombocythemia when accompanied by thrombocytosis.[18] Delayed/missed recognition and a lower intensity of treatment of masked PV may contribute to worse outcomes.[19] High clinical vigilance for a possible PV diagnosis is essential in the presence of suggestive symptoms or complications (e.g., otherwise unexplained thrombosis).[18] 

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