Von Hippel-Lindau Syndrome

Implications for Nursing Care

Suzanne M. Mahon, RN, DNSc, AOCN®, APNG; Laura Waldman, MS, CGC


Oncol Nurs Forum. 2012;39(6):533-536. 

In This Article

Case Study 2

A 29-year-old man named P.L. presented to his primary care provider with a history of palpitations, headaches, and an eight-month history of uncontrolled hypertension. Urine studies revealed elevated catecholamines. Magnetic resonance imaging showed large bilateral adrenal masses. At surgery, bilateral pheochromocytomas (catecholamine-secreting tumors of the adrenal glands) were resected. Family history was obtained as the presence of bilateral pheochromocytomas is suggestive of a hereditary cancer syndrome. P.L.'s mother was 62 years old, had diabetes, and was obese. She was adopted at birth and had no information about her biologic family. P.L.'s father was 63 years old with no major health problems and no family history of malignancy. P.L. had two healthy siblings and no offspring. During his visit with the genetics professional, P.L. was questioned about any personal or family history of vision problems. He stated that he had been experiencing some blurry vision in his right eye. He was then referred to an ophthalmologist and was found to have a unilateral retinal angioma. Genetic testing of the VHL gene was performed and a deleterious mutation was detected, confirming the clinical diagnosis of VHL. Imaging was negative for renal cell carcinoma or additional hemangioblastomas. P.L.'s mother and father underwent genetic testing for the same mutation and both were found to be negative, as were his two siblings