Vascular complications in Chuvash polycythemia

Seminars in Thrombosis and Hemostasis

Volumn 32, Issue 3, 2006, Pages 289-294

  Gordeuk, Victor R ^a   Prchal, Josef T ^b  

^a HOWARD UNIVERSITY   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Bleeding; Hypoxia inducible factor; Polycythemia; Thrombosis; Vascular endothelial growth factor; VHL

Indexed keywords

ERYTHROPOIETIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; THROMBOCYTE ACTIVATING FACTOR ANTAGONIST; VASCULOTROPIN;

ADULT; BLEEDING TENDENCY; CANCER RISK; CHUVASH POLYCYTHEMIA; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC IMAGING; FEMALE; GENE; GENE MUTATION; GENETIC PREDISPOSITION; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYCYTHEMIA; PRIORITY JOURNAL; RECEPTOR UPREGULATION; RETROSPECTIVE STUDY; REVIEW; SOMATIC MUTATION; THROMBOCYTE COUNT; THROMBOPHILIA; VASCULAR DISEASE; VHL GENE; VON HIPPEL LINDAU DISEASE;

ASPIRIN; HUMANS; PHLEBOTOMY; POLYCYTHEMIA; VASCULAR DISEASES;

EID: 33646466489     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2006-939441     Document Type: Review

References (23)

1. Polyakova LA. Familial erythrocytosis among inhabitants of the Chuvash ASSR. Problemi Gematologii i Perelivaniya Krovi 1974;10:30-36
2. Polyakova LA. Familial-Hereditary Erythrocytosis. Moscow: Scientific Research Institute of Hematology and Blood Transfusion 1977
3. Ang SO, Chen H, Gordeuk VR, et al. Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells Mol Dis 2002;28:57-21
4. Ang SO, Chen H, Hirota K, et al. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nat Genet 2002;32:614-621
5. Safran M, Kaelin WG Jr. HIF hydroxylation and the mammalian oxygen-sensing pathway. J Clin Invest 2003;111:779-783
6. Semenza GL. Hypoxia-inducible factor 1: control of oxygen homeostasis in health and disease. Pediatr Res 2001;49:614-617
7. Gordeuk VR, Sergueeva AI, Miasnikova GY, et al. Congenital disorder of oxygen-sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 2004;103:3924-3932
8. Pastore YD, Jelinek J, Ang S, et al. Mutation in the VHL gene in sporadic apparently congenital polycythemia. Blood 2003;101:1591-1595
9. Pastore Y, Jedlickova K, Guan YL, et al. Mutations of von Hippel-Lindau tumor suppressor gene and congenital polycythemia. Am J Hum Genet 2003;73:412-419
10. Percy MJ, McMullin MF, Jowitt SN, et al. Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry. Blood 2003;102:1097-1099
11. Liu E, Percy MJ, Amos CI, et al. The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood 2004;103:1937-1940
12. Richards FM. Molecular pathology of von Hippel-Lindau disease and the VHL tumour suppressor gene. Expert Rev Mol Med 2001;2001:1-27
13. Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet 2003;361:2059-2067
14. Berlin NI. Diagnosis and classification of the polycythemias. Semin Hematol 1975;12:339-351
15. Gruppo Italiano Studio Policitemia. Polycythemia vera: the natural history of 1214 patients followed for 20 years. Ann Intern Med 1995;123:656-664
16. Spivak JL. Polycythemia vera: myths, mechanisms and management. Blood 2002;100:4272-4290
17. Prchal JT. Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders. Semin Hematol 2001;38:10-20
18. Prchal JT, Prchal JF, Semenza GL, Sokol L. Familial polycythemia. Science 1995;268:1831-1832
19. Shibata J, Hasegawa J, Siemens H-J, et al. Hemostasis and coagulation at a hematocrit level of 0.85: functional consequences of erythrocytosis. Blood 2003;101:4416-4422
20. Landolfi R, Marchioli R, Kutti J, et al. Efficacy and safety of low-dose aspirin in polycythemia vera. N Engl J Med 2004;350:114-124
21. Clifford SC, Cockman ME, Smallwood AC, et al. Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet 2001;10:1029-1038
22. Kondo K, Klco J, Nakamura E, Lechpammer M, Kaelin WG Jr. Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein. Cancer Cell 2002;1:237-246
23. Turner KJ, Moore JW, Jones A, et al. Expression of hypoxia-inducible factors in human renal cancer: relationship to angiogenesis and to the von Hippel-Lindau gene mutation. Cancer Res 2002;62:2957-2961