From the Research
For elevated hemoglobin in a never-smoker, the initial workup should include a complete blood count with differential, comprehensive metabolic panel, erythropoietin level, and arterial blood gas analysis to evaluate for secondary polycythemia, as recommended by the most recent study 1. The workup aims to distinguish between primary polycythemia (a myeloproliferative neoplasm) and secondary polycythemia (due to hypoxia, sleep apnea, smoking, high altitude, or other conditions that increase erythropoietin production).
- Consider JAK2 V617F mutation testing to rule out polycythemia vera, especially if other blood cell lines are abnormal, as suggested by 2 and 1.
- Abdominal ultrasound to assess spleen size and renal imaging may be warranted, as mentioned in 3 and 4.
- Sleep study should be performed to evaluate for obstructive sleep apnea, a common cause of secondary polycythemia, as recommended by 2 and 1.
- Other tests to consider include echocardiogram to assess for right-to-left cardiac shunts, pulmonary function tests, and hemoglobin electrophoresis to identify high-oxygen-affinity hemoglobinopathies, as suggested by 3 and 5.
- If secondary causes are ruled out and JAK2 is positive, bone marrow biopsy may be needed to confirm polycythemia vera, as recommended by 4 and 1. Proper diagnosis is crucial as management differs significantly between these conditions, with the goal of preventing thrombosis and improving quality of life, as emphasized by 2, 4, and 1.