Von Hippel-Lindau disease

Abstract

Von Hippel-Lindau disease is a rare genetic disease connected to the group of familial tumor syndromes, manifesting with multiple organ tumors and cysts. This syndrome is inherited autosomal dominant, with frequency of 1/39,000-53,000. The disease has high penetrance and variable expression and is associated with the inactivation of a tumor suppressor gene identified in 1993 in the short arm of chromosome 3. The poliorgan clinical manifestations of the disease are based on the localization of tumor processes, most commonly: hemangioblastomas of the brain, retina and spinal cord, renal cysts and renal cell carcinoma; pheochromocytoma, pancreatic cysts, cystadenoma and neuroendocrine pancreatic tumors, cystic lesions and tumor processes in the testes and epididymis and tumors of the endolymphatic sac. The gold standard for diagnosis is a genetic analysis to prove a genetic defect in a positive family. Patient monitoring requires a systematic examination of parenchyma organs with MRI or CT. Routine screening also includes a sonographic examination of the parenchymal organs. Therapeutic strategies include various open surgical interventions and invasive procedures. Drug treatment today is set to a whole new level by attacking the signaling pathways responsible for the extrinsic proliferators, and the wrong cellular response causes hereditary tumor syndrome.