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  • Print publication year: 2004
  • Online publication date: July 2009

7 - von Hippel–Lindau disease



Von Hippel–Lindau (VHL) disease is an autosomal dominant disorder with high penetrance characterized by various benign and malignant tumors in multiple organ systems. The prevalence of VHL is approximately 1 in 36 000 to 1 in 53 000 births (Maher et al., 1991; Chauveau et al., 1996). Retinal angiomas, one of the hallmark VHL lesions, were initially described in 1904 by ophthalmologist Eugen von Hippel (1904). Pathologist Arvid Lindau (1927) demonstrated in 1927 the association of these retinal lesions with the cystic cerebellar tumors, spinal hemangioblastomas, and lesions in the kidneys, pancreas, and epididymis that characterize the syndrome. The prognosis of individuals with VHL has improved due to better recognition of the syndrome and earlier detection of malignancies.

Clinical features

Renal cell carcinoma occurs both in VHL and sporadically, although it tends to be diagnosed earlier in individuals with VHL (Neumann et al., 1998). Common presenting symptoms include hematuria and flank pain, and these tumors are sometimes discovered via routine screening in asymptomatic VHL patients. In the past, bilateral renal tumors justified total nephrectomy, but the need for dialysis and transplantation has been postponed by the development of nephron sparing subtotal resection techniques (Steinbach et al., 1995; Walther et al., 1995). Once tumors are discovered, the patients should be followed with computed tomography every 6 months until the lesion reaches approximately 3 cm in size, at which time surgery should be considered (Maher & Kaelin, 1997).

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