FaCD Online Syndrome Fact Sheet

Last updated: 04 Feb 2009

Name: Chuvash Polycythemia

Synonym: Erythrocytosis, Familial type 2

Mode of Inheritance: AR

Genes

VHL, mapped to 3p25-p26

Tumor features

hemangioma

Non-tumor features

polycythemia

Comment

This syndrome is characterized by polycythemia, thrombosis and vascular abnormalities and is caused by homozygous muation of the VHL gene. Vertebral hemangiomas do occur, but retinal or brain hemangioblastomas, renal carcinomas, and pheochromocytomas, typical of classical VHL syndrome, have not been observed in patients with this disorder so far.[1,2]

References

[1] Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL, Butman JA, Jedlickova K, Prchal JT, Polyakova LA. Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.B lood. 2004 May 15;103(10):3924-32.
[2] Gordeuk VR, Prchal JT. Vascular complications in Chuvash polycythemia. Semin Thromb Hemost. 2006 Apr;32(3):289-94