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Primary Familial Erythrocytosis

Stella B. Kontras, MD; Carolyn Romshe, MD
Am J Dis Child. 1967;113(4):473-476. doi:10.1001/archpedi.1967.02090190119014.
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PRIMARY erythrocytosis or "benign familial polycythemia" is characterized by an increase in the hemoglobin concentration and the red blood cell count (RBC) due to an increase in total circulating red cell mass. The disease occurs in a familial pattern, is seen primarily in children, and follows a relatively benign course. The absence of leukocytosis and thrombocytosis differentiates it from polycythemia vera. It may be asymptomatic or associated with minor manifestations of headache, lethargy, dizziness, and easy fatigability.

Since the first description of this entity by Spodaro and Forkner1 in 1933, a total of 19 cases have been reported in 13 families.2-9 This paper presents an additional two cases occurring in one family with special studies of pertinence to etiology, diagnosis, and management.

Report of Cases  Case 1.—The patient was first admitted to Columbus Children's Hospital on June 18, 1961, at the age of 11 years with a three-year

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