children s health issues
Von Hippel–Lindau Disease (VHL)
Diagnosis of VHL
Imaging tests Eye examination Genetic testing Doctors determine whether any family members have von Hippel-Lindau disease and do a physical examination. If findings suggest the disorder, various tests are done to check for tumors and other abnormalities: Computed Tomography (CT) or An eye examination including Ophthalmoscopy None Ultrasonography , CT, or MRI of the abdomen Hearing tests Blood tests Von Hippel-Lindau disease is diagnosed when 1 of the following is present: A family history of von Hippel-Lindau disease plus at least 1 characteristic tumor in the eyes, brain, spine, adrenal glands, kidneys, or pancreas Two or more characteristic von Hippel-Lindau disease tumors in people who have no known family history of von Hippel-Lindau disease If doctors detect 1 tumor, they look for others. If doctors are still unsure of the diagnosis, they do tests that analyze chromosomes (molecular genetic testing) to identify the abnormalVHLgene and confirm the diagnosis. If the abnormalVHLgene is identified in a person, genetic testing is done to check for the abnormal gene in family members. 