The cause of primary polycythemia is unknown; the condition is considered idiopathic. A current theory is that the disease is caused by a stem call defect. Secondary polycythemia is caused by excessive production of erythropoietin. Decreased oxygen delivery leads to appropriate overproduction of erythropoietin in the following diseases: chronic obstructive pulmonary disease, cyanotic heart disease, congestive heart failure, drug toxicities inducing hypoventilation, and prolonged exposure to high altitudes. Overproduction of erythropoietin occurs inappropriately in the following conditions: renal carcinoma, renal cysts, hepatoma, uterine fibroids, and endocrine disorders.

Relative polycythemia is caused by dehydration from the following conditions: decreased plasma volume because of diuretic therapy, persistent nausea and vomiting, decreased fluid intake, diabetic ketoacidosis, diabetes insipidus, plasma loss after thermal injury, and excessive drainage from drains or tubes.

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