Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study

Abstract

Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 ± 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging. Results: As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls. Conclusion: This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk.

Idiopathic erythrocytosis: A diagnostic and management challenge with emerging areas for exploration

“…71,74 A cohort of patients with IE were found to have reduced left ventricular function when compared with controls. 78 A population-based study with 20-year follow-up showed haemoglobin in the highest quartile to be an independent risk factor for cardiovascular-related (HR 2.08) and overall mortality (HR 1.48) when adjusted for age, sex, lifestyle and metabolic factors. 77 The nature of the relationship between haemoglobin/ haematocrit levels and these comorbidities is unclear.…”

“…Haemoglobin has also been associated with increased serum uric acid levels 71,74 . A cohort of patients with IE were found to have reduced left ventricular function when compared with controls 78 . A population‐based study with 20‐year follow‐up showed haemoglobin in the highest quartile to be an independent risk factor for cardiovascular‐related (HR 2.08) and overall mortality (HR 1.48) when adjusted for age, sex, lifestyle and metabolic factors 77 …”