ACR Codes: 81.1834
Von Hippel-Lindau disease is a condition manifested by CNS hemangioblastomas (usually cerebellar), retinal angiomas, pheochromocytoma, cysts of the pancreas, kidney, and epididymis, and renal cell carcinoma. It is an an autosomal dominant disorder caused by a defective tumor suppressor gene on chromosome 3; the penetrance is 100%, affecting males and females equally. The diagnosis is established if patients fulfill one of the three following categories:
- more than one CNS hemangioblastoma
- one hemangioblastoma with a visceral manifestation of the disease
- one manifestation of the disease and a known family history
Offspring of affected persons are screened with opthalmoscopic examinations and abdominal US or CT every four years beginning at approximately age 20.
Renal cysts are common and have the propensity to evolve into renal cell carcinoma between the ages of 20 and 50. Cysts larger than 2cm or with complex neoplastic projections into the lumen are more likely to contain foci of cancer. Surgical resection of suspected carcinoma prior to metastisis is performed with emphasis on sparing as much normal kidney as possible; multiple resections over a lifetime is to be expected.
Along with the renal cell carcinoma, surgical resection is the treatment of choice for the large brain tumors, pheochromocytomas, epididymal tumors, and endolymphatic sac tumors found with Von Hippel-Lindau disease. Retinal detachments and tumors are treated by laser therapy, and smaller CNS tumors may be treated by gamma knife.
Imaging studies have demonstrated polycystic disease of the pancreas in up to 30% of affected patients. The cysts may involve the entire pancreas and are lined with cuboidal epithelium. The natural history of these cysts is unknown but is currently under investigation.
Reference(s): Cotran, Robbins Pathologic Basis of Disease, 6th ed., W. B. Saunders Company, 1999.
Feldman, Sleisenger & Fordtran\'s Gastrointestinal and Liver Disease, 6th ed., W. B. Saunders Company, 1998.
Goldman, Cecil Textbook of Medicine, 21st ed., W. B. Saunders Company, 2000.
Walsh, Campbell\'s Urology, 7th ed., W. B. Saunders Company, 1998.
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