What is the management approach for a 26-year-old female with elevated hemoglobin (Hb), hematocrit (Hct), and red blood cell (RBC) count?

From the Guidelines

For a 26-year-old female with elevated hemoglobin, hematocrit, and red blood cell count, the management approach should prioritize therapeutic phlebotomy to maintain hematocrit below 45%, typically removing 450-500 mL of blood every 2-3 months as needed, as recommended by the most recent guidelines 1. The initial step in managing this patient involves a thorough diagnostic workup to determine the underlying cause of the elevated hemoglobin, hematocrit, and red blood cell count. This should include testing for JAK2 V617F mutation, erythropoietin levels, and abdominal ultrasound to assess for splenomegaly.

• Key diagnostic considerations:
  • JAK2 V617F mutation testing to identify polycythemia vera
  • Erythropoietin levels to assess for primary or secondary erythrocytosis
  • Abdominal ultrasound to evaluate for splenomegaly, which may indicate myeloproliferative neoplasm If polycythemia vera is confirmed, therapeutic phlebotomy should be initiated to maintain hematocrit below 45%, as supported by the NCCN guidelines 1, which cite the CYTOPV Study (Marchioli R et al., 2013) for this target.
• Additional management strategies:
  • Low-dose aspirin (81-100 mg daily) to reduce thrombotic risk
  • Hydroxyurea may be added for patients with high thrombotic risk or those who cannot tolerate frequent phlebotomies, starting at 500-1000 mg daily and adjusting based on blood counts
  • Addressing secondary causes like hypoxemia from pulmonary disease, smoking, or high-altitude living if identified
  • Ruling out dehydration as a potential cause of falsely elevated values Regular monitoring of complete blood counts every 2-3 months is essential to adjust therapy and detect disease progression, as outlined in the guidelines 1. This approach targets symptom management and reduction of complications like thrombosis while addressing the underlying pathophysiology of excessive red blood cell production.

From the Research

Management Approach

The management approach for a 26-year-old female with elevated hemoglobin (Hb), hematocrit (Hct), and red blood cell (RBC) count involves several key considerations:

• Phlebotomy to reduce the risk of thrombosis by maintaining a hematocrit level below 45% 2, 3, 4
• Low-dose aspirin therapy to prevent thrombotic events, unless contraindicated 2, 3, 4
• Cytoreductive therapy, such as hydroxyurea or interferon, may be considered for high-risk patients or those with persistent symptoms 2, 3, 4
• Ruxolitinib, a Janus kinase inhibitor, may be used to alleviate pruritus and decrease splenomegaly in patients who are intolerant of or resistant to hydroxyurea 2

Diagnostic Considerations

To establish a diagnosis, the following factors should be considered:

• The presence of a JAK2 gene variant, which is found in over 95% of patients with polycythemia vera (PV) 2
• Erythrocytosis, leukocytosis, and thrombocytosis, which are common features of PV 5, 2, 3
• Splenomegaly, which is present in approximately 36% of patients with PV 2
• The exclusion of secondary causes of erythrocytosis, such as tobacco smoking or sleep apnea 2

Risk Stratification

Patients with PV can be stratified into different risk categories based on factors such as age, thrombosis history, and the presence of adverse mutations:

• High-risk patients are those aged >60 years or with a history of thrombosis 2, 3, 4
• Low-risk patients are those without these risk factors 2, 3, 4
• Additional predictors for arterial thrombosis include cardiovascular risk factors, while higher absolute neutrophil count and JAK2V617F allele burden are associated with an increased risk of venous thrombosis 4