Von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up.

We describe the clinical and pathological features in nine members of a large British family with von Hippel-Lindau disease. Twenty living family members underwent detailed assessment for features of the disease, including retinal examination and computed tomography of the head and abdomen. The hospital records of three deceased family members were reviewed and detailed information about a fourth was obtained from members of the family. As a result of this study, three asymptomatic family members were found to have features of the disease and all three living affected family members were found to have additional features. Lesions discovered included retinal angiomas requiring treatment in four family members, one asymptomatic renal cell carcinoma and one asymptomatic pancreatic endocrine tumour. We also report the occurrence of a spermatic cord mesenchymal hamartoma in von Hippel-Lindau disease.