397- What is Von Hippel–Lindau disease?
Von Hippel–Lindau disease is an autosomal dominant inherited disorder
characterized by retinal and central nervous system hemangioblastomas,
pheochromocytoma/paraganglioma, pancreatic islet cell tumor, and pan-
creatic cystadenoma. In addition, renal cell carcinoma, endolymphatic sac
tumors, and epididymal or broad ligament cystadenomas have also been
described in these patients. Retinal angiomas are the most common mani-
festation of VHL and present as acute vision loss (due to bleed). CNS
hemangioblastomas usually occur in the cerebellum, brain stem, and spinal
cord and clinically manifest as compressive symptoms depending on the
site of involvement. Bilateral pheochromocytoma and/or paragangliomas,
which are usually multiple, is a characteristic feature of VHL. Pancreatic
islet cell tumors are usually nonsecretory, whereas pancreatic cystadenoma
may present with features of biliary obstruction. The treatment for retinal
angiomas includes laser photocoagulation, while surgical resection is the
treatment of choice for pheochromocytoma and pancreatic tumors. For
symptomatic CNS hemangioblastomas, either surgical resection or stereo-
tactic radiotherapy may be useful (Fig. 11.8).11 Multiple Endocrine Neoplasia