Von hippel-lindau disease and erythrocytosis

The increased transcription of HIF target genes plays a key role in the promotion of the angiogenic phenotype that is a characteristic of VHL disease–related tumors. The deregulated oxygen sensing pathway is responsible for the clinical picture that is characteristic of congenital polycythemia as a result of the homozygous VHLR200W mutation, which is characterized by erythrocytosis, pulmonary hypertension, and vertebral hemangiomas. We describe for the first time the contemporary presence in a single patient of these two different clinical phenotypes engendered by germline VHL mutations.