Snapshot A 33-year-old man presents to the emergency department after noticing blood in his urine. Medical history is notable for a recently diagnosed left eye retinal hemangioblastoma, for which ophthalmology is following. Family history is notable for his father having some sort of brain and pancreatic cancer. A CT abdomen demonstrates a left-sided renal mass with areas of necrosis and calcifications. Introduction Definition a genetic disorder that results in benign and malignant tumors that affect many organs central nervous system kidneys adrenal glands pancreas reproductive organs Epidemiology Incidence rare etiology Pathophysiology VHL gene mutation on chromosome 3 the VHL protein may act as a tumor suppressor; however, its role in tumorigenesis is not fully clear ubiquitinates hypoxia-inducible factor 1a Presentation Symptoms/physical exam dependent on where the tumor arises retinal hemangioblastomas (retinal agioma) visual field defect vision loss central nervous system hemangioblastomas cerebellar gait ataxia and dysmetria vertigo and emesis brainstem dyasphagia gait ataxia hyperreflexia spinal cord weakness gait ataxia hyperreflexia incontinence pancreatic tumors if it compresses the bile duct, can result in jaundice renal cell carcinoma or renal cysts flank pain hematuria pheochromocytoma hypertension Imaging MRI brain and spinal cord with and without gadolinium indication to evaluate for central nervous system hemangioblastomas Abdominal CT or MRI indication to evaluate for renal, pancreatic, or adrenal gland lesions Studies VHL molecular genetic testing indication identifies the VHL gene mutation and confirms the diagnosis Differential Isolated malignancies differentiating factors absence of other tumors associated with von Hippel-Lindau disease Treatment Multidisciplinary approach to manage benign and malignant tumors e.g., ophthalmology involvement for management of retinal hemagioblastomas Complications Blindness from retinal hemangioblastomas Renal failure in patients with renal lesions Myocardial infarction or stroke in patients with pheochromocytomas Intestinal or biliary compression in pancreatic lesions