How to manage a patient with erythrocytosis (excessive red blood cell production) and normal Erythropoietin (EPO) levels?

From the Guidelines

Managing a patient with erythrocytosis and normal erythropoietin (EPO) levels requires immediate therapeutic phlebotomy to reduce hematocrit levels, alongside low-dose aspirin for thrombotic risk reduction, unless contraindicated. The approach to managing erythrocytosis, even with normal EPO levels, involves distinguishing between primary and secondary causes, with a focus on controlling symptoms and preventing complications. Key steps include:

• Therapeutic phlebotomy to reduce hematocrit to below 45% in men and 42% in women, as indicated by studies such as 1, which although focused on myeloproliferative neoplasms, underscores the importance of managing elevated blood cell counts.
• Low-dose aspirin (81-100 mg daily) for thrombotic risk reduction, a strategy supported by evidence from the management of related conditions like essential thrombocythemia, as discussed in 1.
• Consideration of cytoreductive therapy, such as hydroxyurea, for high-risk patients or those unable to undergo phlebotomy, aligning with recommendations for high-risk patients with polycythemia vera or essential thrombocythemia 1.
• Lifestyle modifications, including adequate hydration, avoiding extreme heat, and smoking cessation, to mitigate risks associated with erythrocytosis.
• Regular monitoring with complete blood counts, iron studies, and reassessment of thrombotic risk every 2-3 months to adjust management as needed. Given the potential for erythrocytosis to be associated with myeloproliferative neoplasms or other conditions that may present with normal EPO levels, a thorough diagnostic workup is essential, considering factors such as JAK2 mutations or high-affinity hemoglobinopathies. However, the immediate priority is to reduce the risk of thrombotic events and manage symptoms, making therapeutic phlebotomy and low-dose aspirin the cornerstone of initial management, as informed by the principles outlined in studies like 1 and 1.

From the Research

Erythrocytosis with Normal EPO Levels

• Erythrocytosis is characterized by an excessive production of red blood cells, and normal Erythropoietin (EPO) levels can make diagnosis and management challenging 2.
• The first step in managing a patient with erythrocytosis is to measure the EPO level, which can help distinguish between primary and secondary causes 3.
• A normal EPO level in a patient with erythrocytosis may indicate a secondary cause, such as hypoxia triggered by nicotine abuse or chronic heart and lung diseases 2.

Diagnostic Approach

• The diagnostic approach to erythrocytosis involves a combination of clinical evaluation, laboratory tests, and imaging studies 3.
• Measurement of serum EPO level is a useful diagnostic test, with low levels suggesting a primary cause such as polycythemia vera (PV) and normal or elevated levels indicating a secondary cause 4, 5.
• Mutational testing, bone marrow biopsy, and other investigations may be necessary to confirm the diagnosis and guide management 3.

Management of Erythrocytosis with Normal EPO Levels

• The management of erythrocytosis with normal EPO levels depends on the underlying cause, which may be primary or secondary 2, 6.
• In patients with secondary erythrocytosis, treatment of the underlying cause is essential, such as managing chronic heart and lung diseases or discontinuing nicotine abuse 2.
• In patients with primary erythrocytosis, such as PV, treatment with aspirin and phlebotomies may be necessary to reduce the risk of thrombosis and other complications 2, 6.