Von hippel - lindau disease, renal manifestations

von Hippel Lindau disease is an autosomal disorder, with a prevalence of 1 in 40,000, which predisposes to central nervous system haemangioblastomas and a variety of visceral tumours. The von Hippel Lindau disease gene has recently been identified on the short arm of chromosome 3.

Genitourinary manifestations include renal cysts and tumours, adrenal tumours, and papillary cystadenoma of the epididymis or broad ligament. On CT, ultrasound and MRI, the renal cysts of von Hippel Lindau disease (which occur in 60% of patients) are indistinguishable from simple cysts, typically ranging in size from 0.5 to 3.0 cm (Fig.1). The number of cysts is variable. Innumerable cysts may suggest the correct diagnosis. The cysts are not equivalent to simple cysts histologically they have a hyperplastic epithelium, which may be a premalignant change. Small lesions may be difficult to characterize with certainty. Thin section, contrast-enhanced CT is the best modality for surveillance. Guidelines for surveillance protocols vary, but an abdominal CT every year or every other year is a reasonable appproach. Renal cell carcinoma occurs in 25-50% of von Hippel Lindau disease patients and is multicentric and bilateral in at least 75% (Fig.2).

Treatment of multiple renal malignancies is difficult, once renal replacement therapy is required after bilateral nephrectomy. In this regard, it is noteworthy that metastatic disease has not been convincingly reported for tumours under 7 cm in von Hippel Lindau disease and, therefore, conservative treatment may be justified. Phaeochromocytoma occurs in 10-20% of cases. As described above, CT is the modality of choice for the evaluation of disease extent and the diagnosis of renal cell diagnosis. This is why imaging surveillance by CT is recommended. For a general description of the disease, see von Hippel Lindau disease and von Hippel Lindau disease.

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