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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL
R200W
mutation (Chuvash polycythemia)
Haematologica, Volume 97, No. 2, Year 2012
Notification
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Description
Background: Patients with Chuvash polycythemia, (homozygosity for the R200W mutation in the von Hippel Lindau gene (VHL)), have elevated levels of hypoxia inducible factors HIF-1 and HIF-2, often become iron-deficient secondary to phlebotomy, and have elevated estimated pulmonary artery pressure by echocardiography. The objectives of this study were to provide a comprehensive echocardiographic assessment of cardiovascular physiology and to identify clinical, hematologic and cardiovascular risk factors for elevation of tricuspid regurgitation velocity in children and adults with Chuvash polycythemia. Design and Methods: This cross-sectional observational study of 120 adult and pediatric VHLR200W homozygotes and 31 controls at outpatient facilities in Chuvashia, Russian Federation included echocardiography assessment of pulmonary artery pressure (tricuspid regurgitation velocity), cardiac volume, and systolic and diastolic function, as well as hematologic and clinical parameters. We determined the prevalence and risk factors for elevation of tricuspid regurgitation velocity in this population and its relationship to phlebotomy. Results: The age-adjusted mean ± SE tricuspid regurgitation velocity was higher in VHLR200W homozy-gotes than controls with normal VHL alleles (2.5±0.03 vs. 2.3±0.05 m/sec, P=0.005). The age-adjusted left ventricular diastolic diameter (4.8±0.05 vs. 4.5±0.09 cm, P=0.005) and left atrial diameter (3.4±0.04 vs. 3.2±0.08 cm, P=0.011) were also greater in the VHLR200W homozygotes, consistent with increased blood volume, but the elevation in tricuspid regurgitation velocity persisted after adjustment for these variables. Among VHLR200W homozygotes, phlebotomy therapy was associated with lower serum ferritin concentration, and low ferritin independently predicted higher tricuspid regurgitation velocity (standardized beta=0.29; P=0.009). Conclusions: Children and adults with Chuvash polycythemia have higher estimated right ventricular systolic pressure, even after adjustment for echocardiography estimates of blood volume. Lower ferritin concentration, which is associated with phlebotomy, independently predicts higher tri-cuspid regurgitation velocity (www.clinicaltrials.gov identifier NCT00495638). © 2012 Ferrata Storti Foundation.
Authors & Co-Authors
Sable, Craig Andrew
United States, Washington, D.c.
Childrens National Health System
Aliyu, Zakari Yusufu
United States, Washington, D.c.
Howard University
Nigeria
Taraba State Specialist Hospital
Dham, Niti
United States, Washington, D.c.
Childrens National Health System
Nouraie, Mehdi
United States, Washington, D.c.
Howard University
Sachdev, Vandana
United States, Bethesda
National Heart, Lung, and Blood Institute Nhlbi
Sidenko, Stanislav
United States, Bethesda
National Heart, Lung, and Blood Institute Nhlbi
Miasnikova, Galina Y.
Russian Federation
Chuvash Republic Clinical Hospital 2
Polyakova, Lydia A.
Russian Federation
Chuvash Republic Clinical Hospital 2
Sergueeva, Adelina I.
Russian Federation
Cheboksary Children's Hospital
Okhotin, Daniel J.
United States, Vancouver
Russian Research Services
Bushuev, Vladimir
Russian Federation
Chuvash Republic Cardiac Center
Remaley, Alan T.
United States, Bethesda
National Heart, Lung, and Blood Institute Nhlbi
Niu, Xiaomei
United States, Washington, D.c.
Howard University
Castro, Oswaldo Ido
United States, Washington, D.c.
Howard University
Gladwin, Mark T.
United States, Pittsburgh
University of Pittsburgh
Kato, Gregory J.
United States, Bethesda
National Heart, Lung, and Blood Institute Nhlbi
Prchal, Josef T.
United States, Salt Lake City
The University of Utah
Gordeuk, Victor R.
United States, Chicago
University of Illinois at Chicago
Statistics
Citations: 27
Authors: 18
Affiliations: 11
Identifiers
Doi:
10.3324/haematol.2011.051839
ISSN:
03906078
e-ISSN:
15928721
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases
Study Design
Cross Sectional Study