PHEOCHROMOCYTOMA AS THE FIRST MANIFESTATION OF VONHIPPEL-LINDAU-DISEASE

Background. von Hippel-Lindau disease is an autosomal dominant disorde r characterized by the development of hemangioblastomas in the cerebel lum, spinal cord, and retina, renal cell carcinoma and cysts, pancreat ic cysts, and pheochromocytoma. Methods. We have studied a series of 3 6 French patients affected with von Hippel-Lindau disease pheochromocy toma. Thirty (83%) of them were diagnosed as having von Hippel-Lindau disease because the disease occurred in a familial von. Hippel-Lindau disease setting; six (17%) were diagnosed as having von Hippel-Lindau disease because they displayed another characteristic manifestation of that disease. Results. The mean age at pheochromocytoma diagnosis was 29 +/- 14 years (5 to 62 years). Bilateral tumors were documented in 15 (42%) cases, paraganglioma was associated with adrenal pheochromocy toma in four cases, and malignant pheochromocytoma occurred in three c ases. Prevalence of pheochromocytoma revealing von Hippel-Lindau disea se was 20 (53%) out of 36. In six cases pheochromocytoma was the only manifestation of the disease. Conclusions. In the interest of the pati ents themselves and of family members who are at risk, search for von Hippel-Lindau disease must be systematic in the presence of pheochromo cytoma. Basic checkup may be completed with familial inquiry, ophthalm oscopy, cerebral magnetic resonance imaging, abdominal ultrasonography , and computed tomography-scan for detection of latent lesions. In the future, after characterization of von Hippel-Lindau disease gene muta tions, molecular diagnosis is going to be possible in individual patie nts.