Surgical management of the renal manifestations of von Hippel-Lindau disease: a review of a United Kingdom case series

Objectives To review the results of nephron-sparing surgery in a group of patients with non Hippel-Lindau (VHL) disease, a rare familial cancer syndrome which is dominantly inherited and predisposes affected individuals to developing various tumours, including haemangioblastomas of the retina and central nervous system, and multicentric renal cell carcinoma (RCC). Patients and methods The 11 patients (seven men and four women, age range 27-62 years) assessed had been referred for surveillance to the Department of Clinical Genetics, Addenbrooke's Hospital, often having presented with neurological or ocular manifestations of the disease. Their case notes were reviewed to assess the results of conservative surgery. Five patients had more than one parenchymal-sparing operation (either partial nephrectomy or enucleation, i.e. removal of a malignant lesion with a 0.5 cm rim of normal tissue) while four had bilateral procedures. At the time of surgery, co-existent cysts were aspirated to allow a more accurate definition on computed tomography during follow-up. Results At a mean follow-up of 60 months after surgery, eight patients were alive with good renal function. Three patients were alive with paraplegia or paraparesis from spinal cord lesions. The three patients who died (aged 50, 40 and 31 years) were diagnosed when RCC was already advanced and renal tissue-preserving surgery was not possible. Conclusion Nephron-sparing surgery may be justified because morbidity is reduced in patients whose quality of life may already be compromised by neurological and other problems, and because the lesions of RCC are often small, enucleation may also be justifiable in the attempt to conserve renal tissue and delay disease progression.