Abdominal manifestation of von Hippel-Lindom disease in a Kuwaiti family

ABSTRACT

Von Hippel Lindau disease [VHL] is an autosomal dominant multisystem disorder, caused by a genetic defect in the short arm of chromosome 3, and characterised by the development of neuroectodermal tumours. The disease shows variable penetrance between and within affected families and manifests itself by 5 main group of lesions. 1.-Retinal angiomas, often multiple and bilateral. 2.-CNS haemangioblastomas, typically infratentorial although other parts of the CNS can be involved. 3.-Renal cell carcinomas, very commonly multiple and bilateral. 4.-Abdominal [renal, hepatic, pancreatic] cysts and cystadenomas. 5.-Phaeochromocytomas in VHL-type 2. The abdominal manifestations of VHL may occur independently of the CNS lesions and account for much of the morbidity and mortality from this disease. They may also provide a marker for the inheritance of the disease, therefore making their detection of great importance. In this paper, we describe the abdominal manifestations in 13 members of a Kuwaiti family and briefly review the literature on the subject. We also briefly discuss the natural history and treatment of the renal lesions, and the current recommended screening protocol for the disease