PubMed1986
Von Hippel-Lindau disease is an autosomal dominant multisystem disorder, the commonest presenting manifestations of which are haemangioblastomas of the cerebellum and retina. Affected individuals are at risk of developing a number of other lesions, the most serious of which are renal carcinoma, haemangioblastomas elsewhere in the central nervous system and phaeochromocytoma. Patients with this disease can therefore present to a number of disciplines during their lifetime and unless the possibility of von Hippel-Lindau disease is considered, the patient may wrongly be assumed to have an isolated lesion. Twenty patients with cerebellar haemangioblastomas were seen between 1972 and 1985; the diagnosis of von Hippel-Lindau disease was subsequently established in 8. Although the diagnosis had not previously been considered, in retrospect 7/8 cases were known to be at risk of this syndrome. These cases came from 7 families and an additional 4 relatives are also known to have been affected. Mean age of presentation for the various manifestations of von Hippel-Lindau disease, each of which occurred in one or other of our cases, has been calculated from 9 of our patients and 107 others reported in the literature. Clinically significant manifestations almost invariably developed before the age of 50 years. Limited screening of our index cases and their at-risk relatives demonstrated one asymptomatic renal carcinoma. We propose a protocol for screening all individuals at risk of von Hippel-Lindau disease, which involves annual retinal examination from five years, and biennial computerized tomography of the head and abdomen from fifteen and twenty years, respectively.