Congenital Erythrocytosis: a New Form Associated with an Erythropoietin‐dependent Mechanism

Abstract

Three patients with probable congenital erythrocytosis were studied to determine the role of erythropoietin (ESF) in their disease. In addition, haemoglobin function was measured and ESF excretion determined in response to reduction in the haemoglobin concentration. In two cases ESF excretion was clearly elevated above normal, and in the third excretion was normal even at an elevated PCV. In all, phlebotomy of 15--20% of the blood volume led tomore than doubling in ESF excretion. This occurred in the presence of normal molecular haemoglobin function. Studies of the renal vasculature were normal. These results suggest a new form of congenital erythrocytosis associated with increased ESF production which is reciprocally related to the oxygen carrying capacity of the blood, but in the absence of any demonstrable abnormality in oxygen transport. These findings suggest an inherited defect, likely residing in the renal sensor responsible for the production of ESF. This defect is possible due to impaired recognition of available oxygen or else a decrease in oxygen supply at the subcellular level.

Heterogeneity of erythropoietin‐dependent erythrocytosis: case report in a child and synopsis of primary erythrocytosis syndromes

“…Table 111 summarizes key features of syndromes that have been reported to date. In contrast to elevated levels of erythropoietin activity found in erythropoietin-dependent polycythaemia (Dainiak et ul, 19 79;Whitcomb et al, 1980;Distelhorst et al, 1981), unstimulated serum erythropoietin activity is low or normal in patients with polycythaemia Vera (Noyes et al, 1962;Nixon et ul, 1965;Adamson & Finch, 1968;Erslev et al, 1979;Koeffler & Goldwasser, 1981). A similar level of activity was found in sera of two brothers with polycythaemia (Greenberg & Golde, 1 9 77).…”

“…Elevated baseline erythropoietin activities occur with erythropoietin-dependent erythrurytosis (Dainiak et al, 1979;Whitcomb et al 1980). Recently, four family members with erythrocytosis were found to have autonomous erythropoietin production (Distelhorst et a/, 1981).…”

“…In contrast, endogenous colony formation in addition to elevated basal erythropoietin activities that increased after phlebotomy were found in the index case with primary pure erythrocytosis (Dainiak et al, 1979). Three additional patients were reported to have a similar abnormality in erythropoietin production, although in vitra progenitor cell responses were not measured (Whitcomb et al, 1980). In such cases, erythropoietin production is subject to regulation typical of classic hormones.…”

Coinheritance of Chromosomes 3 and 11 in the Patients with Autosomal Recessive Polycythemia from Chuvachia

“…Congenital polycythemia can be inherited as an autosomal dominant or autosomal recessive disease. Although autosomal recessive polycythemia is rare worldwide [3,4], in Chuvachia more than 100 cases of this disease have been revealed. Chuvash autosomal recessive polycythemia (CARP) exhibits the features of both primary and secondary polycythemia [1].…”

Localization of the Gene Responsible for Familial Benign Polycythemia to Chromosome 11q23

“…Autosomal recessive familial benign polycythemia (FBP) (OMIM 263400) [1]is characterized by erythrocytosis, normal leukocyte and platelet counts, and normal uric acid level, with most cases showing increased erythropoietin production. It is a rare disorder, and few families have been described in Western countries [6, 7]. However, the disorder is relatively common in Chuvashia, in the Russian Federation [8, 9], possibly due to a founder effect.…”