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 1

A 39-year-old man named S.E. had complete resection of two hemangioblastomas. The patient had other comorbidities including diabetes, obesity, and recurrent gastric ulcers. Subsequent testing demonstrated a 5 cm renal mass on the left kidney. S.E. underwent a left partial nephrectomy, which demonstrated clear cell renal cancer. After his surgery, S.E. was referred for genetic counseling and consideration of genetic testing.

The genetics professional constructed a pedigree for the patient. S.E.'s father had died at age 59 from high blood pressure and a stroke, and a fraternal twin brother had been successfully treated for a cerebellar hemangioblastoma two years prior. S.E. also had two younger sisters and three children, all of whom were in good health. S.E.'s mother died from obstetric complications and little is known about her family history. Genetic testing was offered and S.E. tested positive for a deleterious VHL mutation. Subsequently, his twin brother, one sister, and two of his children tested positive for the deleterious VHL mutation.