Investigative studies in von Hippel-Lindau disease

Von Hippel-Lindau disease (VHLD) is an autosomal dominant disorder characterized by cerebellar, spinal cord, and retinal hemangioblastomas; cysts of the kidney, pancreas, liver, and epididymis; and an increased frequency of renal cancer (renal cell carcinoma or hypernephroma), pancreatic cancer, and pheochromocytoma. Since expression of the disorder is markedly variable, patients presenting with only one of these abnormalities should be investigated further to determine if the lesion is isolated or is indicative of VHLD. A retrospective review of charts of patients diagnosed at the Mayo Clinic between 1976 and 1981 as having VHLD or a retinal or central nervous system hemangioblastoma demonstrates that adequate investigations were not performed routinely in patients presenting with either type of hemangioblastoma. Of 28 patients with an apparently isolated central nervous system hemangioblastoma, 21 patients had ophthalmologic examinations. Of 7 patients with retinal hemangioblastoma, only 3 had computerized tomography (CT) of the head. Among 35 patients with either isolated central nervous system or retinal hemangioblastoma, only 8 had intravenous pyelograms and none had ultrasonography or CT of the abdomen. Recently, there has been increasing awareness of the need for additional investigations in patients presenting with apparently isolated hemangioblastomas. However, not all physicians are aware of this need. Furthermore, it must be recognized that a family history of an isolated lesion may be the first clue that a person has undiagnosed VHLD.