Familial Erythrocytosis

Abstract

Erythrocytosis is a rare red cell disorder characterized by an elevated haematocrit (Hct) and haemoglobin (Hb) level and red blood cells (RBC) with normal white cells and platelets. Both sporadic and familial forms exist. A 49 years old gentleman presented with lightheadedness, tinnitus, dizziness and uncontrolled hypertension of 5 days duration KIST Medical College Hospital Lalitpur Nepal. His Hb was 17.0 g/dl, Hct 69%, red blood cell (RBC) count 5.8Million, white blood cell (WBC) 10500 and platelets 255000. His oxygen saturation was 98% and serum erythropoietin level was 11.3 m IU/milt (normal range 3.7-29.7m IU/ml). Hb and Hct of his elder brother was 16.5 g/dl and 54% respectively and of elder sister 14.5 g/dl and 50% respectively. Our patient was having erythrocytosis most likely familial. Family didn’t agree for genetic workup; this is the limitation of our case report.