[Von Hippel-Lindau disease].
Von Hippel-Lindau disease (VHL) is an autosomal dominant inherited cancer syndrome. The disease was diagnosed in three patients: a 22-year-old woman who presented with decreased vision due to retinal angiomatosis and in whom a renal carcinoma was diagnosed five years later at a routine VHL analysis, a man aged 44 who died with bilateral renal cysts and clear-cell carcinomas with metastases, who had a positive family history but in whom no regular control investigations had been performed, and a 31-year-old man who also had a positive family history, but who presented with epididymal cystadenoma and who in the subsequent decades developed cerebral and renal neoplasms that all were detected at routine examinations and subsequently removed. These case histories emphasize the importance of: (a) early recognition of patients presenting with a 'sporadic VHL-like' tumour, (b) frequent screening and early treatment of VHL patients and (c) nephron sparing surgery in VHL patients. The prognosis and quality of life of patients with VHL disease has significantly increased by early detection and treatment of asymptomatic tumours, in particular in the eye and kidney.
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Afd. Interne Geneeskunde, Academisch Ziekenhuis, Utrecht.
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D000328:Adult; D000798:Angiomatosis / Q000175:diagnosis; D001932:Brain Neoplasms / Q000175:diagnosis; D003937:Diagnosis, Differential; D005134:Eye Neoplasms / Q000175:diagnosis; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy