Review Question - QID 106367

This patient's exam and history is concerning for Von Hippel-Lindau disease (VHL) , which is inherited in an autosomal dominant fashion; therefore, his child has a 50% chance of inheriting VHL because his wife is not affected.

VHL is an autosomal dominant disease associated with hemangioblastomas of the CNS and the retina, renal cell carcinoma, pheochromocytoma, endolymphatic sac tumors of the middle ear, serous cystadenomas of the pancreas, and papillary cystadenomas. Age of onset of these lesions varies, with retinal lesions often occurring the earliest. Careful surveillance is recommended once VHL is identified in patients beginning from birth.

Lesho discusses the diagnosis and management of VHL, emphasizing the recognition of multi-organ involvement with cerebellar tumors, renal, pancreatic, and epididymal cysts, retinal angiomatosis, pheochromocytomas, and renal cell carcinoma. Providers should have a high index of suspicion when encountering one of these manifestations in patients and inquire about other related symptoms. Individuals with VHL and their children should be closely monitored for these known complications of the disease.

Frantzen et al. reported the results of a chart review of the effects of pregnancy on patients with VHL. They report that cerebellar hemangioblastoma progression can occur during pregnancy, and thus should be closely monitored during preconception and pregnancy.

Figure A is an image of retinal hemangioblastomas, showing adjoining dilated and tortuous arterioles and venules. Illustration A indicates which organs can be affected in VHL.

Incorrect answers:
Answer 1: This would be consistent with an autosomal recessive pattern and the mother was not a carrier.
Answer 2: This is consistent with an autosomal recessive pattern of inheritance of both parents were carriers.
Answer 4: This is consistent with an X-linked dominant pattern of inheritance.
Answer 5: This would be consistent with Y-linked inheritance.