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 diseaseRenal disease Renal artery stenosis Focal sclerosing or membranous glomerulonephritis Renal transplantation

Tumors Hypernephroma Hepatoma Cerebellar hemangioblastoma Uterine fibromyomaDrugs Androgens Recombinant erythropoietinFamilial (with normal Hgb function, Chuvash, erythropoietin receptor mutations)

ABSOLUTE POLYCYTHEMIA VERA

APPARENT 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)

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 veraII. Secondary polycythemia

I. Congenital1) Associated with high or normal serum erythropoietin level 2) Associated with low serum erythropoietin level

II. Acquired1) Erythropoietin mediated

a) Hypoxia-drivenb) Hypoxia-independent (pathologic erythropoietin

production)2) Drug associated3) Unknown mechanism

Secondary Polycythemia

I. Secondary polycythemiaI. 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 polycythemiaII. Acquired

1) Erythropoietin mediateda) Hypoxia-driven

Acquired Secondary Polycythemia

Secondary Polycythemia

I. Secondary polycythemiaII. Acquired

1) Erythropoietin mediatedb) Hypoxia-independent (pathologic

erythropoietin production)

Acquired Secondary Polycythemia

Secondary Polycythemia

I. Secondary polycythemiaII. Acquired

3) Drug associated» Erythropoietin doping» Treatment with androgen preparations

Secondary Polycythemia

I. Secondary polycythemiaII. Acquired

4) Unknown mechanism » Post–renal transplant erythrocytosis