Patomorfologii, Pomorskiej Akademii Medycznej w Szczecinie. Hippel-Lindau disease is one of inherited tumour susceptibility syndromes. The most common lesions are located in central nervous system, retina and visceral organs. Multifocal, often bilateral lesions in form of benign cysts, vascular tumours or carcinomas occur. Management of the lesions often differs from that in sporadic cases of the tumours.
Kidney carcinoma is treated when it reaches a certain size preferably by nephron-sparing surgery.
Special care should be provided to pregnant VHL patients. Available DNA testing enables to identify VHL carriers. Although the mean age of death in VHL patients is 41 at the moment a proper prophylactic, diagnostic and treatment management can probably prolong survival of the patients and limit complications of the disease. The coordination between genetic consultants and clinicians is crucial in the management of the patients. The authors coordinate work of Polish VHL Registry and Polish VHL Association.