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Differential Diagnosis ARCILLA, Juan Martin E. CAUSES OF ERYTHROCYTOSIS Relative Erythrocytosis: Hemoconcentration secondary to dehydration, androgens, or tobaco abuse Absolute Erythrocytosis: Hypoxia Carbon monoxide intoxication High affinity hemoglobin High altitude Pulmonary disease R-L shunts Sleep apnea syndrome Neurologic disease Renal disease Renal artery stenosis Focal sclerosing or membranous glomerulonephritis Renal transplantation Tumors Hypernephroma Hepatoma Cerebellar hemangioblastoma Uterine fibromyoma Drugs Androgens Recombinant erythropoietin Familial (with normal Hgb function, Chuvash, erythropoietin receptor mutations) ABSOLUTE POLYCYTHEMIA VERA Either a clonal myeloproliferative disorder (polycythemia vera) or a nonclonal increase in red blood cell mass that is often mediated by erythropoietin (secondary polycythemia) APPARENT POLYCYTHEMIA VERA Either a decrease in plasma volume (relative polycythemia) or a misperception of what constitutes the upper limit of normal values for either hemoglobin or hematocrit Apparent Polycythemia I. Relative Polycythemia – – conditions that cause acute depletion of volume e.g., severe dehydration, diarrhea, vomiting, use of diuretics, capillary leak syndrome, severe burns the existence of chronic contraction of the plasma volume Gaisbock’s syndrome Stress/spurious polycythemia Absolute Polycythemia I. Polycythemia vera II. Secondary polycythemia I. Congenital 1) 2) II. Associated with high or normal serum erythropoietin level Associated with low serum erythropoietin level Acquired 1) Erythropoietin mediated a) Hypoxia-driven b) Hypoxia-independent (pathologic erythropoietin production) 2) Drug associated 3) Unknown mechanism Secondary Polycythemia I. Secondary polycythemia I. Congenital 1) Associated with high or normal serum erythropoietin level » Chuvash and other polycythemias associated with von values Hippel-Lindau (VHL) gene mutation » High–oxygen affinity hemoglobinopathy » 2,3-Diphosphoglycerate mutase deficiency 2) Associated with low serum erythropoietin level » Activating mutation of the erythropoietin receptor Secondary Polycythemia I. Secondary polycythemia II. Acquired 1) Erythropoietin mediated a) Hypoxia-driven Acquired Secondary Polycythemia Erythropoietin mediated Hypoxiadriven Central hypoxic process Chronic lung disease Right-toleft cardiopul monary vascular shunts Highaltitude habitat Carbon monoxide poisoning Hypoxiaindependent Peripheral hypoxic process Smoker's polycythemia (chronic carbon monoxide exposure) Hypoventilat ion syndromes including sleep apnea Localized Renal artery stenosis Secondary Polycythemia I. Secondary polycythemia II. Acquired 1) Erythropoietin mediated b) Hypoxia-independent (pathologic erythropoietin production) Acquired Secondary Polycythemia Erythropoietin mediated Hypoxiadriven Hypoxia-independent (pathologic erythropoietin production) Nonmalignant conditions Malignant tumors HCC Renal cell cancer Cerebellar hemangiobl astoma Parathyroid carcinoma Uterine leiomyo mas Renal cysts (polycysti c kidney disease) Pheochro mocytoma Meningioma Secondary Polycythemia I. Secondary polycythemia II. Acquired 3) Drug associated » » Erythropoietin doping Treatment with androgen preparations Secondary Polycythemia I. Secondary polycythemia II. Acquired 4) Unknown mechanism » Post–renal transplant erythrocytosis
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