Abstract

Polycythaemia has been reported rarely as a familial condition. There is evidence to suggest transmission as a Mendelian dominant trait, but recessive inheritance has also been described. We present here a case of benign familial polycythaemia in a 25-year-old male with similar presentation in his family members. Our patient presented with reddish discolouration of the eyes, early satiety , weight loss and itching at intervals, for four years. An additional examination revealed red beefy tongue and Grade III clubbing. The importance of presenting this case lies in the fact that the prognosis appears to be good in these patients, but regular observation is necessary as Kiladjian and colleagues have mentioned that there is a risk of leukaemia, thrombosis and myelofibrosis in these patients later on, as the idiopathic erythrocytosis group contains a certain number of polycythaemia patients.

Highlights

  • N and or similar phenotype is present in reltransfusion, dizziness, any visual, cardiological and neurological symptoms

  • We present here a case of benign loose motions, history of exposure, blood familial polycythaemia in a 25-year-old male with similar presentation in his family memly bers

  • There was Grade III clubbing without any rise of Jugular venous pulse (JVP) or oedema

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Summary

Introduction

N and or similar phenotype is present in reltransfusion, dizziness, any visual, cardiological and neurological symptoms. Patient had no complaints regarding affection of renal system and he is non diabetic, non hypertensive. On examination the patient had reddish discolouration of the lower palpebral conjunctiva, and beefy red tongue. There was Grade III clubbing without any rise of Jugular venous pulse (JVP) or oedema. Pulse, Respiratory rate were within normal limits. O2 saturation (SpO2) was normal, so were examination of the testes and per rectal examination. (USG) of whole abdomen and Computed Tomography (CT scan) of abdomen while a normal CT scan of Brain ruled out Central Nervous System (CNS) hemangiomas. Twentyfour hour urinary catecholamines and metanephrines as well as blood levels of catecholamines and metanephrines were normal eliminating pheochromocytoma

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