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Hereditary Erythrocytosis

Applying an algorithmic and reflexive approach to diagnosis



December 2012

What is Primary or Secondary Erythrocytosis?

Erythrocytosis (increased red blood cell mass or polycythemia) may be primary, due to an intrinsic defect of bone marrow stem cells (polycythemia vera: PV), or secondary, in response to increased serum erythropoietin levels.

Secondary erythrocytosis is associated with a number of disorders including chronic lung disease, chronic increase in carbon monoxide (due to smoking), cyanotic heart disease, high-altitude living, renal cysts and tumors, hepatoma, and other erythropoietin-secreting tumors.

What is Hereditary Erythrocytosis?

When common causes of secondary erythrocytosis are excluded, a heritable cause involving hemoglobin or erythrocyte regulatory mechanisms may be present.

Unlike polycythemia vera, hereditary erythrocytosis is not associated with the risk of clonal evolution and should present with isolated erythrocytosis which has been present since birth. It is caused by a mutation in one of several genes and may be inherited in either an autosomal dominant or autosomal recessive manner. A family history of erythrocytosis would be expected in these cases, although it is possible for new mutations to arise in an individual.


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