Erythropoietin-induced congenital erythrocytosis:Treatment with myelosuppressive agents and hookworm infestation

Abstract

PATIENTS WITH POLYCYTHEMIA may need periodic phlebotomies because high blood viscosity and decreased flow enhance the risk of thrombosis and cerebrovascular accidents. ~4 We report a child with polycythemia resulting from autonomous erythropoietin overproduction, in whom phlebotomy therapy was hampered by absence of accessible peripheral veins; diverse therapeutic attempts to suppress erythropoiesis and increase red blood cell loss were used. CASE REPORT Plethora with otherwise normal physical findings was first noticed in this white girl at 2 months of age. Personal and family history were unremarkable. The only abnormal data in the hemogram were hematocrit 65% and hemoglobin 21.6 gm/dl. Irritability, insomnia, decreased activity, and persistent plethora prompted further medical attention at 9 months of age. Growth and development were normal, and physical examination yielded unremarkable findings except for plethoric appearance and mild splenomegaly. Hematocrit was 68%, and hemoglobin 29.8 gm/dl. The following studies all yielded normal or negative results: the remainder of the hemogram, arterial Po2, hemoglobin electrophoresis, hemoglobin 02 dissociation curve (both stripped and unstripped of organic phosphates), erythrocyte 2,3-diphosphoglycerate content, serum alpha fetoprotein and carcinoembryonic antigen concentrations, renal and liver function tests, intravenous pyelogram, sonograms of the heart, liver, and kidneys, chest radiograph, cardiac catheterization, renal and hepatic arteriograms, and a computed tomogram of the head. A red blood cell mass measurement by the standard ~Cr dilution method was 49 ml/kg (normal <32 ml). Bone marrow examination showed marked erythroid hyperplasia. Serum erythropoietin levels (kindly performed by Dr. J.